ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)

gnomAD frequency: 0.00036  dbSNP: rs200662873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820095 SCV000960789 uncertain significance Glucose-6-phosphate transport defect 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 338 of the SLC37A4 protein (p.Phe338Leu). This variant is present in population databases (rs200662873, gnomAD 0.08%). 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: 215175). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC37A4 protein function. 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.
Ambry Genetics RCV002345709 SCV002620427 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The p.F338L variant (also known as c.1012T>C), located in coding exon 7 of the SLC37A4 gene, results from a T to C substitution at nucleotide position 1012. The phenylalanine at codon 338 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003407703 SCV004114994 uncertain significance SLC37A4-related disorder 2023-08-14 criteria provided, single submitter clinical testing The SLC37A4 c.1012T>C variant is predicted to result in the amino acid substitution p.Phe338Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.076% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-118896012-A-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000820095 SCV001457210 uncertain significance Glucose-6-phosphate transport defect 2020-04-16 no assertion criteria provided clinical testing

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