ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)

gnomAD frequency: 0.00004  dbSNP: rs863224212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196037 SCV000252296 uncertain significance not provided 2014-11-17 criteria provided, single submitter clinical testing p.Ser407Thr (AGC>ACC): c.1220 G>C in exon 10 of the SLC37A4 gene (NM_001164277.1) A variant of unknown significance has been identified in the SLC37A4 gene. The S407T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is moderately conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. A missense mutations in a nearby residue (R415G) has been reported in association with glycogen storage disease 1b, supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001220344 SCV001392326 uncertain significance Glucose-6-phosphate transport defect 2021-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001220344 SCV002078540 uncertain significance Glucose-6-phosphate transport defect 2020-11-20 no assertion criteria provided clinical testing

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