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NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
May 8, 2018
Accession:
VCV000580779.1
Variation ID:
580779
Description:
single nucleotide variant
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NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)

Allele ID
564454
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119029294 (GRCh38) GRCh38 UCSC
11: 118900004 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001164277.1:c.76T>C NP_001157749.1:p.Phe26Leu missense
NC_000011.10:g.119029294A>G
NC_000011.9:g.118900004A>G
... more HGVS
Protein change
F26L
Other names
-
Canonical SPDI
NC_000011.10:119029293:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs1468641405
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 May 8, 2018 RCV000704424.1
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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
Uncertain significance
(May 08, 2018)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Invitae
Accession: SCV000833373.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces phenylalanine with leucine at codon 26 of the SLC37A4 protein (p.Phe26Leu). The phenylalanine residue is highly conserved and there is a … (more)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1468641405...

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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