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NM_001164277.2(SLC37A4):c.381+2T>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 23, 2020)
Last evaluated:
Oct 23, 2020
Accession:
VCV000633418.2
Variation ID:
633418
Description:
single nucleotide variant
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NM_001164277.2(SLC37A4):c.381+2T>G

Allele ID
621806
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119028192 (GRCh38) GRCh38 UCSC
11: 118898902 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_187:g.7715T>G
LRG_187t1:c.381+2T>G
NC_000011.10:g.119028192A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:119028191:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs782645078
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 21, 2018 RCV000781850.1
Likely pathogenic 1 criteria provided, single submitter Oct 23, 2020 RCV001268012.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
686 719

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 21, 2018)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000920221.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: SLC37A4 c.381+2T>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to … (more)
Likely pathogenic
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
(Unknown mechanism)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446588.1
Submitted: (Oct 23, 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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Title Author Journal Year Link
The SLC37 family of sugar-phosphate/phosphate exchangers. Chou JY Current topics in membranes 2014 PMID: 24745989

Text-mined citations for rs782645078...

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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 Nov 27, 2021