ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)

dbSNP: rs781846380
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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 RCV001240365 SCV001413301 uncertain significance Glucose-6-phosphate transport defect 2024-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 43 of the SLC37A4 protein (p.Pro43Ser). This variant is present in population databases (rs781846380, gnomAD 0.03%). 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: 965824). 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.
Ambry Genetics RCV002379916 SCV002694945 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The p.P43S variant (also known as c.127C>T), located in coding exon 1 of the SLC37A4 gene, results from a C to T substitution at nucleotide position 127. The proline at codon 43 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002484315 SCV002791316 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-04-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003414042 SCV004107449 uncertain significance SLC37A4-related disorder 2022-10-26 criteria provided, single submitter clinical testing The SLC37A4 c.127C>T variant is predicted to result in the amino acid substitution p.Pro43Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-118899953-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001240365 SCV001466220 uncertain significance Glucose-6-phosphate transport defect 2020-04-16 no assertion criteria provided clinical testing

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