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NM_000153.4(GALC):c.1490-8C>G

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 28, 2020)
Last evaluated:
Aug 15, 2020
Accession:
VCV000990185.1
Variation ID:
990185
Description:
single nucleotide variant
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NM_000153.4(GALC):c.1490-8C>G

Allele ID
979535
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87945741 (GRCh38) GRCh38 UCSC
14: 88412085 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88412085G>C
NC_000014.9:g.87945741G>C
NM_000153.4:c.1490-8C>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:87945740:G:C
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 no assertion criteria provided Aug 15, 2020 RCV001278157.1
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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
Uncertain significance
(Aug 15, 2020)
no assertion criteria provided
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001465153.1
Submitted: (Dec 28, 2020)
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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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 Jan 02, 2021