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NM_000153.4(GALC):c.691G>A (p.Glu231Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Sep 1, 2017
Accession:
VCV000553651.1
Variation ID:
553651
Description:
single nucleotide variant
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NM_000153.4(GALC):c.691G>A (p.Glu231Lys)

Allele ID
547311
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87976419 (GRCh38) GRCh38 UCSC
14: 88442763 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88442763C>T
NC_000014.9:g.87976419C>T
NM_000153.4:c.691G>A MANE Select NP_000144.2:p.Glu231Lys missense
... more HGVS
Protein change
E231K, E208K, E205K
Other names
-
Canonical SPDI
NC_000014.9:87976418:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
1000 Genomes Project 0.00020
Links
dbSNP: rs542231350
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 1, 2017 RCV000669147.1
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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
Uncertain significance
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000793864.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)

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
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. Spratley SJ Traffic (Copenhagen, Denmark) 2016 PMID: 27126738
Insights into Krabbe disease from structures of galactocerebrosidase. Deane JE Proceedings of the National Academy of Sciences of the United States of America 2011 PMID: 21876145
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. De Gasperi R American journal of human genetics 1996 PMID: 8940268

Text-mined citations for rs542231350...

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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 Apr 17, 2020