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NM_000153.4(GALC):c.609C>G (p.Ala203=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 16, 2020
Accession:
VCV001093963.1
Variation ID:
1093963
Description:
single nucleotide variant
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NM_000153.4(GALC):c.609C>G (p.Ala203=)

Allele ID
1080801
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87982217 (GRCh38) GRCh38 UCSC
14: 88448561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88448561G>C
NC_000014.9:g.87982217G>C
NM_000153.4:c.609C>G MANE Select NP_000144.2:p.Ala203= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:87982216: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
Likely benign 1 criteria provided, single submitter Jun 16, 2020 RCV001414278.1
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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
Likely benign
(Jun 16, 2020)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001616408.1
Submitted: (Jan 07, 2021)
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 May 19, 2021