Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established. However, loss of function is an unlikely mechanism. (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to histidine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (16 heterozygotes, 0 homozygotes). (I) 0503 - Missense variant consistently predicted to be tolerated by multiple in silico tools or not conserved in placental mammals with a minor amino acid change. (SB) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as likely pathogenic and pathogenic, and observed multiple times as de novo in individuals with Kenny-Caffey syndrome or nanophthalmos (ClinVar, DECIPHER, PMID: 32996714; PMID: 23684011). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed, by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
ClinVar Genomic variation as it relates to human health
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
Germline
Classification
Help
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.
(12)
Help
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
12
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
Variation ID: 56810 Accession: VCV000056810.21
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11q12.1 11: 59153374 (GRCh38) [ NCBI UCSC ] 11: 58920847 (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 Feb 2, 2016 Jul 23, 2024 Jul 16, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001312909.2:c.1706G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001299838.1:p.Arg569His missense NM_001142519.3:c.1706G>A NP_001135991.1:p.Arg569His missense NM_001142520.3:c.1706G>A NP_001135992.1:p.Arg569His missense NM_001142521.3:c.1706G>A NP_001135993.1:p.Arg569His missense NM_001312910.2:c.1706G>A NP_001299839.1:p.Arg569His missense NM_001312911.2:c.1706G>A NP_001299840.1:p.Arg569His missense NM_001369457.1:c.1706G>A NP_001356386.1:p.Arg569His missense NM_001374804.1:c.1706G>A NP_001361733.1:p.Arg569His missense NM_001374848.1:c.1706G>A NP_001361777.1:p.Arg569His missense NM_001374849.1:c.1706G>A NP_001361778.1:p.Arg569His missense NM_001374850.1:c.1706G>A NP_001361779.1:p.Arg569His missense NM_001374851.1:c.1706G>A NP_001361780.1:p.Arg569His missense NM_001374852.1:c.1706G>A NP_001361781.1:p.Arg569His missense NM_001374853.1:c.1706G>A NP_001361782.1:p.Arg569His missense NM_001374854.1:c.1706G>A NP_001361783.1:p.Arg569His missense NM_001374855.1:c.1706G>A NP_001361784.1:p.Arg569His missense NM_001374856.1:c.1706G>A NP_001361785.1:p.Arg569His missense NM_001374857.1:c.1706G>A NP_001361786.1:p.Arg569His missense NM_001374858.1:c.1706G>A NP_001361787.1:p.Arg569His missense NM_001374859.1:c.1706G>A NP_001361788.1:p.Arg569His missense NM_001374860.1:c.1706G>A NP_001361789.1:p.Arg569His missense NM_001374861.1:c.1706G>A NP_001361790.1:p.Arg569His missense NM_001374862.1:c.1706G>A NP_001361791.1:p.Arg569His missense NM_001374863.1:c.1706G>A NP_001361792.1:p.Arg569His missense NM_001374864.1:c.1706G>A NP_001361793.1:p.Arg569His missense NM_001374865.1:c.1706G>A NP_001361794.1:p.Arg569His missense NM_001374866.1:c.1706G>A NP_001361795.1:p.Arg569His missense NM_001374867.1:c.1706G>A NP_001361796.1:p.Arg569His missense NM_001374868.1:c.1706G>A NP_001361797.1:p.Arg569His missense NM_001374869.1:c.1706G>A NP_001361798.1:p.Arg569His missense NM_001374870.1:c.1706G>A NP_001361799.1:p.Arg569His missense NM_022074.4:c.1706G>A NP_071357.2:p.Arg569His missense NM_198847.3:c.1706G>A NP_942144.1:p.Arg569His missense NC_000011.10:g.59153374G>A NC_000011.9:g.58920847G>A NG_042835.1:g.15629G>A Q96PZ2:p.Arg569His - Protein change
- R569H
- Other names
- -
- Canonical SPDI
- NC_000011.10:59153373:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe 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
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 | ||
|---|---|---|---|---|---|---|
| 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. |
|||
| FAM111A | - | - |
GRCh38 GRCh37 |
240 | 266 | |
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. |
|---|---|---|---|---|
| Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Jul 16, 2023 | RCV000050209.10 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Sep 9, 2022 | RCV000419087.13 | |
| Pathogenic (1) |
criteria provided, single submitter
|
May 28, 2019 | RCV000988563.1 | |
| not provided (1) |
no classification provided
|
- | RCV001249420.1 | |
| Likely pathogenic (1) |
criteria provided, single submitter
|
Feb 2, 2018 | RCV001267015.3 |
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
(Jul 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal dominant Kenny-Caffey syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002769489.2
First in ClinVar: Dec 24, 2022 Last updated: Jul 23, 2024 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established. However, loss of function is an unlikely mechanism. (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to histidine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (16 heterozygotes, 0 homozygotes). (I) 0503 - Missense variant consistently predicted to be tolerated by multiple in silico tools or not conserved in placental mammals with a minor amino acid change. (SB) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as likely pathogenic and pathogenic, and observed multiple times as de novo in individuals with Kenny-Caffey syndrome or nanophthalmos (ClinVar, DECIPHER, PMID: 32996714; PMID: 23684011). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed, by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
|
|
|
Pathogenic
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Osteocraniostenosis
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001138329.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Pathogenic
(Sep 09, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000516941.6
First in ClinVar: Mar 08, 2017 Last updated: Mar 04, 2023 |
Comment:
Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with … (more)
Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28138333, 32765931, 24970356, 23996431, 24635597, 32996714, 33010201, 33258288, 23684011) (less)
|
|
|
Pathogenic
(Sep 07, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001587218.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
ClinVar contains an entry for this variant (Variation ID: 56810). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the … (more)
ClinVar contains an entry for this variant (Variation ID: 56810). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with Kenny-Caffey syndrome (PMID: 23684011, 23996431, 24635597, 24970356). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 569 of the FAM111A protein (p.Arg569His). (less)
|
|
|
Pathogenic
(Jun 04, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000861682.1
First in ClinVar: Dec 19, 2017 Last updated: Dec 19, 2017 |
Number of individuals with the variant: 1
Sex: mixed
|
|
|
Pathogenic
(Sep 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal dominant Kenny-Caffey syndrome
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002573250.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of … (more)
The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (3Cnet: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000056810). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Delayed speech and language development (present) , Small for gestational age (present) , Failure to thrive (present) , Sparse hair (present) , Small, conical teeth … (more)
Delayed speech and language development (present) , Small for gestational age (present) , Failure to thrive (present) , Sparse hair (present) , Small, conical teeth (present) , Partial congenital absence of teeth (present) , Dry skin (present) , Tethered cord (present) , Hypopituitarism (present) , Proportionate short stature (present) , Broad neck (present) , Abnormal eyebrow morphology (present) (less)
|
|
|
Likely pathogenic
(Feb 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: yes
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001445196.2
First in ClinVar: Nov 21, 2020 Last updated: Jan 07, 2023 |
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Caucasian/Scottish/English/Native American
|
|
|
Pathogenic
(Apr 01, 2014)
|
no assertion criteria provided
Method: literature only
|
KENNY-CAFFEY SYNDROME, TYPE 2
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000082785.2
First in ClinVar: Jul 25, 2013 Last updated: Jun 05, 2017 |
Comment on evidence:
In 4 unrelated patients with Kenny-Caffey syndrome (KCS2; 127000), Unger et al. (2013) identified heterozygosity for a c.1706G-A transition in the FAM111A gene, resulting in … (more)
In 4 unrelated patients with Kenny-Caffey syndrome (KCS2; 127000), Unger et al. (2013) identified heterozygosity for a c.1706G-A transition in the FAM111A gene, resulting in an arg569-to-his (R569H) substitution. The mutation was not found in the 1000 Genomes Project or NHLBI Exome Variant Server databases. The patients included a 40-year-old Swiss woman, a 17-year-old Indian boy, a 10-year-old German boy, and a 6-month-old Italian girl. In the 2 patients for whom DNA was available from both parents, the mutation was confirmed to have arisen de novo. Hypocalcemia was noted in 3 of the 4 patients; other features included hypermetropic and defective dentition. The oldest patient also had cataracts, hypoacusis, and a high-pitched voice. In 3 unrelated Japanese patients with KCS2, Isojima et al. (2014) identified heterozygosity for the R569H mutation in the FAM111A gene. The mutation segregated with the disorder in all 3 families. Isojima et al. (2014) identified the mutation in an additional unrelated patient. (less)
|
|
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Uncertain significance
(Jun 27, 2013)
|
no assertion criteria provided
Method: literature only
|
Kenny-Caffey syndrome type 2
Affected status: yes
Allele origin:
germline
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000244019.1
First in ClinVar: Feb 02, 2016 Last updated: Feb 02, 2016 |
|
|
|
Pathogenic
(May 22, 2014)
|
no assertion criteria provided
Method: research
|
Autosomal dominant Kenny-Caffey syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre
Accession: SCV000996315.1
First in ClinVar: Nov 02, 2019 Last updated: Nov 02, 2019 |
Clinical Features:
short stature (present) , hypocalcemia (present) , maculopathy (present) , neuropsychomotor delay (present) , speech delay (present) , learning disability (present)
Segregation observed: no
Secondary finding: no
|
|
|
Uncertain significance
(Aug 01, 2019)
|
no assertion criteria provided
Method: research
|
Autosomal dominant Kenny-Caffey syndrome
Affected status: yes
Allele origin:
de novo
|
Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001297980.1
First in ClinVar: Sep 19, 2020 Last updated: Sep 19, 2020 |
|
|
|
not provided
(-)
|
no classification provided
Method: phenotyping only
|
Osteocraniostenosis
Autosomal dominant Kenny-Caffey syndrome
Affected status: yes
Allele origin:
paternal
|
GenomeConnect, ClinGen
Accession: SCV001423422.1
First in ClinVar: Jul 19, 2020 Last updated: Jul 19, 2020 |
Comment:
Variant interpretted as Pathogenic and reported on 03-20-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided … (more)
Variant interpretted as Pathogenic and reported on 03-20-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Overgrowth (present) , Obesity (present) , Short stature (present) , Failure to thrive (present) , Growth hormone deficiency (present) , Growth hormone excess (present) , … (more)
Overgrowth (present) , Obesity (present) , Short stature (present) , Failure to thrive (present) , Growth hormone deficiency (present) , Growth hormone excess (present) , Tall stature (present) , Hyperthyroidism (present) , Abnormality of the parathyroid physiology (present) , Abnormality of the hair (present) , Abnormality of the skull (present) , Abnormality of limb bone morphology (present) , Skeletal dysplasia (present) (less)
Indication for testing: Diagnostic
Age: 0-9 years
Sex: female
Testing laboratory: GeneDx
Date variant was reported to submitter: 2019-03-20
Testing laboratory interpretation: Pathogenic
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Comment:
Comment:
Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28138333, 32765931, 24970356, 23996431, 24635597, 32996714, 33010201, 33258288, 23684011)
Comment:
ClinVar contains an entry for this variant (Variation ID: 56810). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with Kenny-Caffey syndrome (PMID: 23684011, 23996431, 24635597, 24970356). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 569 of the FAM111A protein (p.Arg569His).
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (3Cnet: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000056810). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Comment:
Variant interpretted as Pathogenic and reported on 03-20-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
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:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established. However, loss of function is an unlikely mechanism. (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to histidine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (16 heterozygotes, 0 homozygotes). (I) 0503 - Missense variant consistently predicted to be tolerated by multiple in silico tools or not conserved in placental mammals with a minor amino acid change. (SB) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as likely pathogenic and pathogenic, and observed multiple times as de novo in individuals with Kenny-Caffey syndrome or nanophthalmos (ClinVar, DECIPHER, PMID: 32996714; PMID: 23684011). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed, by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Comment:
Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28138333, 32765931, 24970356, 23996431, 24635597, 32996714, 33010201, 33258288, 23684011)
Comment:
ClinVar contains an entry for this variant (Variation ID: 56810). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with Kenny-Caffey syndrome (PMID: 23684011, 23996431, 24635597, 24970356). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 569 of the FAM111A protein (p.Arg569His).
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (3Cnet: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000056810). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Comment:
Variant interpretted as Pathogenic and reported on 03-20-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. | Lang E | Acta ophthalmologica | 2021 | PMID: 32996714 |
| Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. | Grosse G | Hormone research in paediatrics | 2017 | PMID: 29073591 |
| Whole exome sequencing to identify genetic causes of short stature. | Guo MH | Hormone research in paediatrics | 2014 | PMID: 24970356 |
| Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. | Nikkel SM | Clinical genetics | 2014 | PMID: 24635597 |
| A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. | Isojima T | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2014 | PMID: 23996431 |
| FAM111A mutations result in hypoparathyroidism and impaired skeletal development. | Unger S | American journal of human genetics | 2013 | PMID: 23684011 |
| http://web.expasy.org/variant_pages/VAR_069518.html | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FAM111A | - | - | - | - |
Text-mined citations for rs587777011 ...
HelpThese 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 Sep 29, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.