VCV000424820.2 - ClinVar

NM_000157.3(GBA1):c.[1197G>T];[1603C>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

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This genotype includes the following variants

NM_000157.3(GBA1):c.[1197G>T];[1603C>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.
GBA1		-	-	GRCh38 GRCh38 GRCh37	32	405
LOC106627981	-	-	-	GRCh38 GRCh38	-	359

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.
Gaucher disease type I	Likely pathogenic (1)	no assertion criteria provided	Oct 1, 2015	RCV000225494.3

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.
Likely pathogenic (Oct 01, 2015)	no assertion criteria provided Method: research	Gaucher disease type I (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics Accession: SCV000282510.2 First in ClinVar: Jun 25, 2016 Last updated: Jun 25, 2016	Comment: Variant c.1197G>T/p.G360R (ENST00000368373) was found to be pathogenic by online software like SIFT and Polyphen-2. Clinical Features: Hepatomegaly (present) , Splenomegaly (present) , Strabismus (present) , Infantile muscular hypotonia (present) , Storage cells in bone marrow suggestive of Gaucher Disease (present) Age: 0-9 years Sex: male Ethnicity/Population group: Indian Geographic origin: India Tissue: Blood Method: Polymerase Chain Reaction followed by bi-directional Sanger sequencing was performed covering all exons and exon-intron boundaries of the GBA gene.

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
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.	Sheth J	BMC medical genetics	2019	PMID: 30764785
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.	Leija-Salazar M	Molecular genetics & genomic medicine	2019	PMID: 30637984
Clinical and molecular characteristics of patients with Gaucher disease in Southern China.	Feng Y	Blood cells, molecules & diseases	2018	PMID: 27865684
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.	Robak LA	Brain : a journal of neurology	2017	PMID: 29140481
GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.	Zampieri S	The Journal of molecular diagnostics : JMD	2017	PMID: 28727984
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.	Yang AC	Genetics in medicine : official journal of the American College of Medical Genetics	2017	PMID: 27735925
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.	Ankleshwaria C	Journal of human genetics	2014	PMID: 24522292
Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.	Karaca E	Journal of pediatric endocrinology & metabolism : JPEM	2012	PMID: 23426826
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.	Liou B	The Journal of biological chemistry	2006	PMID: 16293621
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.	Kawame H	Human genetics	1992	PMID: 1487244
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/1ece6757-9431-4fb4-b1c4-77d81c19d975	-	-	-	-
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Text-mined citations for this variant ...

Record last updated Oct 08, 2024

ClinVar Genomic variation as it relates to human health

NM_000157.3(GBA1):c.[1197G>T];[1603C>T]

Variant Details

NM_000157.3(GBA1):c.[1197G>T];[1603C>T]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...