ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1220G>C (p.Ser407Thr) (rs863224212)

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Total submissions: 2
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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).
Invitae RCV001220344 SCV001392326 uncertain significance Glucose-6-phosphate transport defect 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 407 of the SLC37A4 protein (p.Ser407Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 215184). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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