VCV000427824.1 - ClinVar

NM_000404.3(GLB1):c.[276G>A];[75+5G>C]

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_000404.3(GLB1):c.[276G>A];[75+5G>C]

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.
GLB1		-	-	GRCh38 GRCh37	1058	1171
LOC129936434	-	-	-	GRCh38	-	65
TMPPE	-	-	-	GRCh38 GRCh37	-	106

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.
Infantile GM1 gangliosidosis	Likely pathogenic (1)	no assertion criteria provided	May 11, 2016	RCV000234894.3

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 (May 11, 2016)	no assertion criteria provided Method: research	Infantile GM1 gangliosidosis (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics Accession: SCV000268646.2 First in ClinVar: Jul 09, 2016 Last updated: Jul 09, 2016	Comment: Variant c.75+5G>C (ENST00000307363) found to be pathogenic by online software Mutation Taster and Variant c.276G>A reported to cause disease (HGMD ID:CM115631). Clinical Features: Developmental regression (present) , Hepatosplenomegaly (present) , Cherry red spot of the macula (present) Age: 0-9 years Sex: male Ethnicity/Population group: Indian Geographic origin: India Method: Polymerase chain reaction followed by bi-directional Sanger sequencing was performed covering all exons and exon-intron boundaries of GLB1.

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
Recurrent and novel GLB1 mutations in India.	Bidchol AM	Gene	2015	PMID: 25936995
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.	Higaki K	Human mutation	2011	PMID: 21520340
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.	Brunetti-Pierri N	Molecular genetics and metabolism	2008	PMID: 18524657

Text-mined citations for this variant ...

Record last updated Oct 20, 2024

ClinVar Genomic variation as it relates to human health

NM_000404.3(GLB1):c.[276G>A];[75+5G>C]

Variant Details

NM_000404.3(GLB1):c.[276G>A];[75+5G>C]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...