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NM_000153.4(GALC):c.181_182insAG (p.Val61fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 19, 2020
Accession:
VCV001070539.1
Variation ID:
1070539
Description:
2bp insertion
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NM_000153.4(GALC):c.181_182insAG (p.Val61fs)

Allele ID
1063179
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
14q31.3
Genomic location
14: 87992983-87992984 (GRCh38) GRCh38 UCSC
14: 88459327-88459328 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88459328_88459329insTC
NC_000014.9:g.87992984_87992985insTC
NM_000153.4:c.181_182insAG MANE Select NP_000144.2:p.Val61fs frameshift
... more HGVS
Protein change
V61fs
Other names
-
Canonical SPDI
NC_000014.9:87992983:C:CTC
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 Mar 19, 2020 RCV001382729.1
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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
(Mar 19, 2020)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001581632.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Val61Glufs*12) 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

Record last updated May 13, 2021