Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2018)
Last evaluated:
Mar 7, 2018
Accession:
VCV000000948.2
Variation ID:
948
Description:
single nucleotide variant
Help

NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)

Allele ID
15987
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.3
Genomic location
3: 32997307 (GRCh38) GRCh38 UCSC
3: 33038799 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.33038799T>C
NM_001079811.3:c.1682A>G NP_001073279.2:p.Tyr561Cys missense
NM_001135602.3:c.1379A>G NP_001129074.2:p.Tyr460Cys missense
... more HGVS
Protein change
Y591C, Y460C, Y561C, Y639C
Other names
-
Canonical SPDI
NC_000003.12:32997306:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
OMIM: 611458.0026
dbSNP: rs72555371
ClinGen: CA114671
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 7, 2018 RCV000673090.1
Pathogenic 1 no assertion criteria provided Jan 1, 2000 RCV000000998.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GLB1 - - GRCh38
GRCh37
466 508

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 07, 2018)
criteria provided, single submitter
Method: clinical testing
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Allele origin: unknown
Counsyl
Accession: SCV000798258.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jan 01, 2000)
no assertion criteria provided
Method: literature only
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
Allele origin: germline
OMIM
Accession: SCV000021148.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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 this variant

Help
Title Author Journal Year Link
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Takai T Molecular therapy : the journal of the American Society of Gene Therapy 2013 PMID: 23337983
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Higaki K Human mutation 2011 PMID: 21520340
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Caciotti A Human mutation 2005 PMID: 15714521
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Morrone A Human mutation 2000 PMID: 10737981

Text-mined citations for rs72555371...

Help
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 27, 2021