ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2058C>A (p.Ser686Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003829432 SCV004627982 uncertain significance Progressive familial heart block type IB 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 686 of the TRPM4 protein (p.Ser686Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV004366810 SCV005027361 uncertain significance Cardiovascular phenotype 2023-11-21 criteria provided, single submitter clinical testing The p.S686R variant (also known as c.2058C>A), located in coding exon 15 of the TRPM4 gene, results from a C to A substitution at nucleotide position 2058. The serine at codon 686 is replaced by arginine, an amino acid with dissimilar 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.

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