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NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 16, 2019
Accession:
VCV000651170.3
Variation ID:
651170
Description:
single nucleotide variant
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NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)

Allele ID
642771
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87965534 (GRCh38) GRCh38 UCSC
14: 88431878 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.87965534T>C
NC_000014.8:g.88431878T>C
NM_000153.4:c.1004A>G MANE Select NP_000144.2:p.Tyr335Cys missense
... more HGVS
Protein change
Y312C, Y309C, Y335C
Other names
-
Canonical SPDI
NC_000014.9:87965533:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs757407613
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 16, 2019 RCV000806470.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALC - - GRCh38
GRCh37
701 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 16, 2019)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV000946473.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces tyrosine with cysteine at codon 335 of the GALC protein (p.Tyr335Cys). The tyrosine residue is highly conserved and there is a … (more)

Functional evidence

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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

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Title Author Journal Year Link
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. Saavedra-Matiz CA Journal of neuroscience research 2016 PMID: 27638593
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. Spratley SJ Traffic (Copenhagen, Denmark) 2016 PMID: 27126738
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. Puckett RL Molecular genetics and metabolism 2012 PMID: 22115770
Molecular heterogeneity of Krabbe disease. Fu L Journal of inherited metabolic disease 1999 PMID: 10234611

Text-mined citations for rs757407613...

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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 May 10, 2021