VCV000424780.2 - ClinVar

NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]

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.

(1)

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.

Likely pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This genotype includes the following variants

NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]

Other names: -
Functional consequence: -
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
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.
GOSR2		-	-	GRCh38 GRCh37	3	342
LRRC37A2		-	-	GRCh38 GRCh38 GRCh38 GRCh37	-	645

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.
Progressive myoclonic epilepsy type 6	Likely pathogenic (1)	criteria provided, single submitter	Jan 22, 2013	RCV000198527.10

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.
Likely pathogenic (Jan 22, 2013)	criteria provided, single submitter (Lee et al. (JAMA. 2014)) Method: clinical testing	Epilepsy, progressive myoclonic 6 (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	UCLA Clinical Genomics Center, UCLA Study: CES Accession: SCV000255383.3 First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015	Age: 0-9 years Sex: male Testing laboratory: UCLA Clinical Genomics Center

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.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.	Hentrich L	Genes	2023	PMID: 37895210
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.	Stemmerik MG	Human mutation	2021	PMID: 34167170
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.	Henige H	European journal of medical genetics	2021	PMID: 33639315
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.	Truty R	Epilepsia open	2019	PMID: 31440721
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.	Larson AA	Skeletal muscle	2018	PMID: 29855340
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.	Völker JM	Disease models & mechanisms	2017	PMID: 28982678
Clinical exome sequencing for genetic identification of rare Mendelian disorders.	Lee H	JAMA	2014	PMID: 25326637
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.	van Egmond ME	Movement disorders : official journal of the Movement Disorder Society	2014	PMID: 24458321
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.	Boissé Lomax L	Brain : a journal of neurology	2013	PMID: 23449775
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.	Corbett MA	American journal of human genetics	2011	PMID: 21549339
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.	Corbett MA	American journal of human genetics	2011	PMID: 21549339
Splicing in action: assessing disease causing sequence changes.	Baralle D	Journal of medical genetics	2005	PMID: 16199547
Tsai, L., Schwake, M., Corbett, M. A., Gecz, J., Berkovic, Shieh, P. B. GOSR 2: a novel form of congenital muscular dystrophy. (Abstract) Neuromusc. Disord. 23: 748-only, 2013.	-	-	-	-
Tsai, L., Schwake, M., Corbett, M. A., Gecz, J., Berkovic, Shieh, P. B. GOSR 2: a novel form of congenital muscular dystrophy. (Abstract) Neuromusc. Disord. 23: 748-only, 2013.	-	-	-	-
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Text-mined citations for this variant ...

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]

Variant Details

NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...