ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.3550C>A (p.Arg1184Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003181815 SCV003858011 uncertain significance Cardiovascular phenotype 2024-12-28 criteria provided, single submitter clinical testing The p.R1184S variant (also known as c.3550C>A), located in coding exon 24 of the TRPM4 gene, results from a C to A substitution at nucleotide position 3550. The arginine at codon 1184 is replaced by serine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003609258 SCV004560788 uncertain significance Progressive familial heart block type IB 2023-07-26 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 2448580). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is present in population databases (rs779436318, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1184 of the TRPM4 protein (p.Arg1184Ser).

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