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NM_000153.4(GALC):c.328+6A>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
May 1, 2020
Accession:
VCV000314757.7
Variation ID:
314757
Description:
single nucleotide variant
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NM_000153.4(GALC):c.328+6A>G

Allele ID
339704
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87988138 (GRCh38) GRCh38 UCSC
14: 88454482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000153.4:c.328+6A>G MANE Select
NC_000014.8:g.88454482T>C
NC_000014.9:g.87988138T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:87988137:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00011
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00011
Links
ClinGen: CA7297434
dbSNP: rs201977747
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Aug 19, 2019 RCV000330221.4
Uncertain significance 3 criteria provided, single submitter May 1, 2020 RCV001508373.3
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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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000389263.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Aug 19, 2019)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001411970.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change falls in intron 3 of the GALC gene. It does not directly change the encoded amino acid sequence of the GALC protein, … (more)
Uncertain significance
(May 01, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714491.1
Submitted: (May 26, 2021)
Evidence details
Uncertain significance
(Apr 18, 2020)
no assertion criteria provided
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001466006.1
Submitted: (Dec 28, 2020)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922877.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001973633.1
Submitted: (Sep 21, 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.

Text-mined citations for rs201977747...

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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 Oct 24, 2021