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NM_000153.4(GALC):c.686_694del (p.Leu229_Ser232delinsPro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 11, 2020
Accession:
VCV001076664.1
Variation ID:
1076664
Description:
9bp deletion
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NM_000153.4(GALC):c.686_694del (p.Leu229_Ser232delinsPro)

Allele ID
1063174
Variant type
Deletion
Variant length
9 bp
Cytogenetic location
14q31.3
Genomic location
14: 87976416-87976424 (GRCh38) GRCh38 UCSC
14: 88442760-88442768 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88442760_88442768del
NC_000014.9:g.87976416_87976424del
NM_000153.4:c.686_694del MANE Select NP_000144.2:p.Leu229_Ser232delinsPro
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:87976415:ACTCCCAGA:
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 Feb 11, 2020 RCV001390645.1
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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
(Feb 11, 2020)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001592446.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This variant, c.683_694delinsCTC, results in the deletion of 5 and insertion of 2 amino acid(s) of the GALC protein (p.Asn228_Ser232delinsThrPro), but otherwise preserves the integrity … (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
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type. Irahara-Miyana K Journal of human genetics 2018 PMID: 29615819
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. Lim SM Oncotarget 2016 PMID: 27780934
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. Yoshimura A Japanese clinical medicine 2016 PMID: 27679535
Molecular defects in Krabbe disease. Tatsumi N Human molecular genetics 1995 PMID: 8595408

Record last updated May 13, 2021