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NM_000153.4(GALC):c.927A>C (p.Leu309Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jan 25, 2017
Accession:
VCV000549982.1
Variation ID:
549982
Description:
single nucleotide variant
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NM_000153.4(GALC):c.927A>C (p.Leu309Phe)

Allele ID
547891
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87965611 (GRCh38) GRCh38 UCSC
14: 88431955 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88431955T>G
NC_000014.9:g.87965611T>G
NM_000153.4:c.927A>C MANE Select NP_000144.2:p.Leu309Phe missense
... more HGVS
Protein change
L309F, L286F, L283F
Other names
-
Canonical SPDI
NC_000014.9:87965610:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs758904079
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 Jan 25, 2017 RCV000664582.1
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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
(Jan 25, 2017)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000788570.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

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
Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation. Tomás J BMJ case reports 2015 PMID: 26396125

Text-mined citations for rs758904079...

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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 Apr 17, 2020