ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)

gnomAD frequency: 0.00051  dbSNP: rs181879065
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810477 SCV000950679 uncertain significance Glucose-6-phosphate transport defect 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 81 of the SLC37A4 protein (p.Ser81Phe). This variant is present in population databases (rs181879065, gnomAD 0.05%). 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: 654503). 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.
GeneDx RCV001553060 SCV001773861 uncertain significance not provided 2020-09-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002487759 SCV002784463 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166293 SCV003855199 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The p.S81F variant (also known as c.242C>T), located in coding exon 2 of the SLC37A4 gene, results from a C to T substitution at nucleotide position 242. The serine at codon 81 is replaced by phenylalanine, an amino acid with highly dissimilar 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.
Natera, Inc. RCV000810477 SCV001457671 uncertain significance Glucose-6-phosphate transport defect 2020-09-16 no assertion criteria provided clinical testing

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