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NM_000153.4(GALC):c.432_433dup (p.Thr145fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 22, 2020
Accession:
VCV001070765.1
Variation ID:
1070765
Description:
2bp duplication
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NM_000153.4(GALC):c.432_433dup (p.Thr145fs)

Allele ID
1063176
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
14q31.3
Genomic location
14: 87986497-87986498 (GRCh38) GRCh38 UCSC
14: 88452841-88452842 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88452842_88452843dup
NC_000014.9:g.87986498_87986499dup
NM_000153.4:c.432_433dup MANE Select NP_000144.2:p.Thr145fs frameshift
... more HGVS
Protein change
T119fs, T122fs, T145fs
Other names
-
Canonical SPDI
NC_000014.9:87986497:TA:TATA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 22, 2020 RCV001383047.1
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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
699 720

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 22, 2020)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001582064.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Thr145Ilefs*27) 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
Newborn screening for Krabbe disease in New York State: the first eight years' experience. Orsini JJ Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26795590
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

Record last updated May 13, 2021