ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)

gnomAD frequency: 0.00002  dbSNP: rs781834870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314282 SCV001504809 uncertain significance Glucose-6-phosphate transport defect 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 315 of the SLC37A4 protein (p.Met315Thr). This variant is present in population databases (rs781834870, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015427). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC37A4 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002476457 SCV002781387 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001314282 SCV002078696 uncertain significance Glucose-6-phosphate transport defect 2020-02-03 no assertion criteria provided clinical testing

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