VCV000014082.22 - ClinVar

NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(14)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)

Variation ID: 14082 Accession: VCV000014082.22

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 22q12.3 22: 36292060 (GRCh38) [ NCBI UCSC ] 22: 36688106 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Apr 4, 2013	Nov 24, 2024	Sep 18, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_002473.6:c.4270G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_002464.1:p.Asp1424Asn	missense
NC_000022.11:g.36292060C>T
NC_000022.10:g.36688106C>T
NG_011884.2:g.100959G>A
LRG_567:g.100959G>A
LRG_567t1:c.4270G>A	LRG_567p1:p.Asp1424Asn
	P35579:p.Asp1424Asn

... more HGVS ... less HGVS

Protein change

D1424N

Other names

Canonical SPDI

NC_000022.11:36292059:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA123739 UniProtKB: P35579#VAR_018316 OMIM: 160775.0010 dbSNP: rs80338831 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
MYH9		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	1392	1498

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	Nov 17, 2023	RCV000015134.43
MYH9-related disorder	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Aug 18, 2023	RCV000790358.4
Thrombocytopenia	Pathogenic (1)	criteria provided, single submitter	May 27, 2020	RCV001271110.2
Autosomal dominant nonsyndromic hearing loss 17	Likely pathogenic (1)	criteria provided, single submitter	May 31, 2021	RCV002466404.1
not provided	Pathogenic (3)	criteria provided, multiple submitters, no conflicts	Sep 18, 2024	RCV002513058.5
Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Pathogenic (1)	criteria provided, single submitter	Dec 21, 2021	RCV002496364.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Dec 12, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	MYH9-related disorder (Autosomal dominant inheritance) Affected status: yes Allele origin: unknown	NIHR Bioresource Rare Diseases, University of Cambridge Accession: SCV000891151.1 First in ClinVar: Jul 27, 2019 Last updated: Jul 27, 2019	Comment: PS4, PP1_strong, PM2, PP4, PP3 Observation 1: Sex: male Ethnicity/Population group: Middle-Eastern Observation 2: Sex: male Observation 3: Sex: male Ethnicity/Population group: South-Asian Observation 4: Sex: female Ethnicity/Population group: Hispanic
Pathogenic (Dec 21, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Autosomal dominant nonsyndromic hearing loss 17 Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002803145.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Pathogenic (Aug 18, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	MYH9-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004107706.1 First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023	Comment: The MYH9 c.4270G>A variant is predicted to result in the amino acid substitution p.Asp1424Asn. This variant has been reported to be causative for MYH9-related disorders … (more) The MYH9 c.4270G>A variant is predicted to result in the amino acid substitution p.Asp1424Asn. This variant has been reported to be causative for MYH9-related disorders in several unrelated families (see for example Kunishima et al. 2001. PubMed ID: 11159552; Seri et al. 2003. PubMed ID: 12792306; Dong et al. 2005. PubMed ID: 16098078; Verver et al. 2016. PubMed ID: 26226608). The c.4270G>A substitution is one of the most common pathogenic variants found in the MYH9 gene, and it is thought to cause disease due to haploinsufficiency from unstable MYH9 protein (Deutsch et al. 2003. PubMed ID: 12649151). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic. (less)
Pathogenic (Jul 25, 2024)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV003923969.2 First in ClinVar: May 13, 2023 Last updated: Sep 29, 2024	Comment: Published functional studies demonstrate a damaging effect on platelet count, platelet size, and bleeding time (PMID: 35584211, 32315395, 21908426); Not observed at significant frequency in … (more) Published functional studies demonstrate a damaging effect on platelet count, platelet size, and bleeding time (PMID: 35584211, 32315395, 21908426); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30725031, 31064749, 23207509, 22217922, 22967416, 27577209, 26226608, 26942920, 29451856, 32581362, 33855781, 34711033, 34711031, 35295078, 16162639, 24186861, 12649151, 21908426, 32315395, 15339844, 19572073, 35584211, 11159552) (less)
Pathogenic (Dec 29, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	May-Hegglin anomaly Affected status: yes Allele origin: germline	Genetic Services Laboratory, University of Chicago Accession: SCV000595889.1 First in ClinVar: Jun 02, 2016 Last updated: Jun 02, 2016
Pathogenic (May 27, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Thrombocytopenia (Autosomal dominant inheritance) Affected status: yes Allele origin: inherited	MNM Diagnostics Accession: SCV001451954.1 First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021	Comment: According to ACMG Guidelines, the variant meets the following criteria of pathogenicity: PS4, PM2, PM5, PP2, PP3, PP4, PP5.
Pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Affected status: yes Allele origin: maternal, unknown	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology Accession: SCV002500896.1 First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 Comment: GoldVariant submitters: Dr Karyn Mégy, NIHR Bioresource - Cambridge University, UK and Marie-Christine Morel-Kopp, Northern Blood Research Centre, Sydney, Australia	Publications: PubMed (2) PubMed: 34355501‚ 29090586 Observation 1: Family history: yes Observation 2: Observation 3: Clinical Features: Macrothrombocytopenia (present) , Döhle body-like inclusions (present) Ethnicity/Population group: Caucasian
Likely pathogenic (May 31, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal dominant nonsyndromic hearing loss 17 (Autosomal dominant inheritance) Affected status: yes Allele origin: germline	Genetics and Molecular Pathology, SA Pathology Additional submitter: Shariant Australia, Australian Genomics Accession: SCV002761846.1 First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022
Pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (Autosomal dominant inheritance) Affected status: yes Allele origin: inherited	Suma Genomics Accession: SCV003852611.1 First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Pathogenic (Nov 17, 2023)	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV004222828.1 First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024	Publications: PubMed (2) PubMed: 26226608‚ 12649151 Comment: Variant summary: MYH9 c.4270G>A (p.Asp1424Asn) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more) Variant summary: MYH9 c.4270G>A (p.Asp1424Asn) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251372 control chromosomes. c.4270G>A has been reported in the literature in multiple individuals affected with Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss (Deutsch_2003, Verver_2016), and it co-segregated with disease conditions in two large families (Deutsch_2003). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <50% of normal protein levels in patients' cells (Deutsch_2003). The following publications have been ascertained in the context of this evaluation (PMID: 12649151, 26226608). Seven submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
Pathogenic (Dec 11, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV003444536.2 First in ClinVar: Feb 07, 2023 Last updated: Feb 14, 2024	Publications: PubMed (3) PubMed: 11159552‚ 23207509‚ 15339844 Comment: This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1424 of the MYH9 protein … (more) This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1424 of the MYH9 protein (p.Asp1424Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with MYH9-related disorders (PMID: 11159552, 23207509). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 14082). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH9 protein function. Experimental studies have shown that this missense change affects MYH9 function (PMID: 15339844). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Sep 18, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Not provided Affected status: unknown Allele origin: germline	Mayo Clinic Laboratories, Mayo Clinic Accession: SCV005413401.1 First in ClinVar: Nov 24, 2024 Last updated: Nov 24, 2024	Publications: PubMed (16) PubMed: 12621333‚ 12649151‚ 15339844‚ 19572073‚ 20221761‚ 21542825‚ 21908426‚ 24186861‚ 25752999‚ 26942920‚ 29090586‚ 29451856‚ 32315395‚ 33855781‚ 35584211‚ 38650331 Comment: PP1_moderate, PP3, PP5, PM2_moderate, PM5, PS3, PS4 Number of individuals with the variant: 4
Pathogenic (Jul 15, 2003)	no assertion criteria provided Method: literature only	MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS Affected status: not provided Allele origin: germline	OMIM Accession: SCV000035391.3 First in ClinVar: Apr 04, 2013 Last updated: Jun 30, 2018	Publications: PubMed (6) PubMed: 12649151‚ 11590545‚ 11159552‚ 1449176‚ 12621333‚ 12792306 Comment on evidence: Deutsch et al. (2003) studied a Swiss family and an American family with the May-Hegglin anomaly/Fechtner syndrome (MATINS; 155100) and found an asp1424-to-asn (D1424N) mutation … (more) Deutsch et al. (2003) studied a Swiss family and an American family with the May-Hegglin anomaly/Fechtner syndrome (MATINS; 155100) and found an asp1424-to-asn (D1424N) mutation in the MYH9 gene. Affected members in both families presented with severe thrombocytopenia, as well as characteristic giant platelets and Dohle-like inclusion bodies on blood smear examination. In the Swiss family, 2 affected sisters developed bilateral cataracts at a young age, whereas the third sister and her son had high-tone sensorineural deafness. Two individuals with thrombocytopenia showed no extrahematologic symptoms. None showed signs of nephritis. In the American family, 4 individuals suffered from sensorineural deafness, but no cataracts or nephritis were observed. Haplotype analysis indicated that in this family the mutation was a de novo event in 1 individual. The same mutation had previously been described in a pedigree of Japanese origin and in 2 pedigrees of American origin, most likely as a result of independent mutation events (Heath et al., 2001; Kunishima et al., 2001). Deutsch et al. (2003) demonstrated that the phenotypes result from a highly unstable MYH9 protein. No abnormalities in protein localization or mRNA stability were observed. They hypothesized that haploinsufficiency of MYH9 results in a failure to properly reorganize the cytoskeleton in megakaryocytes as required for efficient platelet production. In the proband of the family with macrothrombocytopenia and progressive sensorineural deafness reported by Brodie et al. (1992), Mhatre et al. (2003) identified a heterozygous 4270G-A transition in exon 30 of the MYH9 gene, resulting in the D1424N substitution in the highly conserved coiled-coil region of the protein. Seri et al. (2003) identified a heterozygous D1424N mutation in a patient described as having May-Hegglin anomaly and Sebastian syndrome. The authors suggested that the 2 disorders are not separate entities, but rather represent the same disease with a continuous clinical spectrum. (less)
not provided (-)	no classification provided Method: literature only	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Affected status: unknown Allele origin: germline	GeneReviews Accession: SCV000055828.3 First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022	Publications: BookShelf: NBK2689 BookShelf: NBK2689 Comment: Associated with thrombocytopenia, but low risk of developing other disease manifestations over time
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Comment:

The MYH9 c.4270G>A variant is predicted to result in the amino acid substitution p.Asp1424Asn. This variant has been reported to be causative for MYH9-related disorders in several unrelated families (see for example Kunishima et al. 2001. PubMed ID: 11159552; Seri et al. 2003. PubMed ID: 12792306; Dong et al. 2005. PubMed ID: 16098078; Verver et al. 2016. PubMed ID: 26226608). The c.4270G>A substitution is one of the most common pathogenic variants found in the MYH9 gene, and it is thought to cause disease due to haploinsufficiency from unstable MYH9 protein (Deutsch et al. 2003. PubMed ID: 12649151). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

Comment:

Published functional studies demonstrate a damaging effect on platelet count, platelet size, and bleeding time (PMID: 35584211, 32315395, 21908426); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30725031, 31064749, 23207509, 22217922, 22967416, 27577209, 26226608, 26942920, 29451856, 32581362, 33855781, 34711033, 34711031, 35295078, 16162639, 24186861, 12649151, 21908426, 32315395, 15339844, 19572073, 35584211, 11159552)

Comment:

Variant summary: MYH9 c.4270G>A (p.Asp1424Asn) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251372 control chromosomes. c.4270G>A has been reported in the literature in multiple individuals affected with Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss (Deutsch_2003, Verver_2016), and it co-segregated with disease conditions in two large families (Deutsch_2003). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <50% of normal protein levels in patients' cells (Deutsch_2003). The following publications have been ascertained in the context of this evaluation (PMID: 12649151, 26226608). Seven submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1424 of the MYH9 protein (p.Asp1424Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with MYH9-related disorders (PMID: 11159552, 23207509). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 14082). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH9 protein function. Experimental studies have shown that this missense change affects MYH9 function (PMID: 15339844). For these reasons, this variant has been classified as Pathogenic.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Diagnostic delay of MYH9-related disorder in Japan.	Sakamoto A	British journal of haematology	2024	PMID: 38650331
Reduced platelet forces underlie impaired hemostasis in mouse models of MYH9-related disease.	Baumann J	Science advances	2022	PMID: 35584211
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.	Megy K	Journal of thrombosis and haemostasis : JTH	2021	PMID: 34355501
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.	Natesirinilkul R	Pediatric blood & cancer	2021	PMID: 33855781
MYH9-Related Disease.	Adam MP	-	2021	PMID: 20301740
Megakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease.	Pal K	Blood	2020	PMID: 32315395
A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion bodies in a Chinese inherited macrothrombocytopenia pedigree.	Guo X	Clinical chemistry and laboratory medicine	2018	PMID: 29451856
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.	Rabbolini DJ	Platelets	2018	PMID: 29090586
Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.	Wasano K	European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery	2016	PMID: 26942920
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.	Verver EJ	Ear and hearing	2016	PMID: 26226608
MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature.	Palandri F	British journal of haematology	2015	PMID: 25752999
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.	Pecci A	Human mutation	2014	PMID: 24186861
Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.	Sun XH	Acta haematologica	2013	PMID: 23207509
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.	Zhang Y	Blood	2012	PMID: 21908426
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.	Balduini CL	British journal of haematology	2011	PMID: 21542825
MYH9-related disease: Report on five German families and description of a novel mutation.	Savoia A	Annals of hematology	2010	PMID: 20221761
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation.	Pecci A	Thrombosis and haemostasis	2009	PMID: 19572073
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.	Franke JD	Blood	2005	PMID: 15339844
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.	Seri M	Medicine	2003	PMID: 12792306
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.	Deutsch S	Blood	2003	PMID: 12649151
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.	Mhatre AN	Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology	2003	PMID: 12621333
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.	Heath KE	American journal of human genetics	2001	PMID: 11590545
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).	Kunishima S	Blood	2001	PMID: 11159552
Macrothrombocytopenia and progressive deafness: a new genetic syndrome.	Brodie HA	The American journal of otology	1992	PMID: 1449176
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Text-mined citations for rs80338831 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs80338831 ...