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NM_000153.4(GALC):c.453G>A (p.Trp151Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 18, 2019
Accession:
VCV000642301.3
Variation ID:
642301
Description:
single nucleotide variant
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NM_000153.4(GALC):c.453G>A (p.Trp151Ter)

Allele ID
642773
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87984523 (GRCh38) GRCh38 UCSC
14: 88450867 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88450867C>T
NC_000014.9:g.87984523C>T
NM_000153.4:c.453G>A MANE Select NP_000144.2:p.Trp151Ter nonsense
... more HGVS
Protein change
W125*, W128*, W151*
Other names
-
Canonical SPDI
NC_000014.9:87984522:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs745620101
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 Jun 18, 2019 RCV000795746.3
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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
(Jun 18, 2019)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV000935218.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Trp151*) in the GALC gene. It is expected to result in an absent or disrupted protein … (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
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. Xu C Journal of human genetics 2006 PMID: 16607461
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Furuya H Human genetics 1997 PMID: 9272171
The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). Kobayashi T Brain research 1980 PMID: 7437911

Text-mined citations for rs745620101...

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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