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NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 30, 2021)
Last evaluated:
Sep 1, 2019
Accession:
VCV000633226.5
Variation ID:
633226
Description:
1bp duplication
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NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)

Allele ID
621479
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87941414-87941415 (GRCh38) GRCh38 UCSC
14: 88407758-88407759 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88407759dup
NC_000014.9:g.87941415dup
NG_011853.2:g.57149dup
... more HGVS
Protein change
Y582*, Y605*, Y579*
Other names
-
Canonical SPDI
NC_000014.9:87941414:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs766007316
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 1, 2019 RCV000781391.3
Pathogenic 2 no assertion criteria provided - RCV001724154.2
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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
715 736

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 31, 2017)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919386.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: The GALC c.1814dupA (p.Tyr605X) variant results in a premature termination codon, predicted to cause a truncated or absent GALC protein due to nonsense … (more)
Pathogenic
(Sep 01, 2019)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001382219.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr605*) in the GALC gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959367.1
Submitted: (Sep 30, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975005.1
Submitted: (Sep 21, 2021)
Evidence details

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
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months. Beltran-Quintero ML Orphanet journal of rare diseases 2019 PMID: 30777126
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 rs766007316...

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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 Nov 27, 2021