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NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 14, 2019
Accession:
VCV000972103.1
Variation ID:
972103
Description:
single nucleotide variant
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NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)

Allele ID
957326
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87947776 (GRCh38) GRCh38 UCSC
14: 88414120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88414120G>A
NC_000014.9:g.87947776G>A
NM_000153.4:c.1441C>T MANE Select NP_000144.2:p.Pro481Ser missense
... more HGVS
Protein change
P455S, P458S, P481S
Other names
-
Canonical SPDI
NC_000014.9:87947775:G:A
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
Uncertain significance 1 criteria provided, single submitter Jun 14, 2019 RCV001248052.1
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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
701 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2019)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001421513.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces proline with serine at codon 481 of the GALC protein (p.Pro481Ser). The proline residue is highly conserved and there is a … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jul 19, 2020