ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1747T>G (p.Ser583Ala)

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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 RCV004096598 SCV003565156 uncertain significance Cardiovascular phenotype 2024-09-08 criteria provided, single submitter clinical testing The p.S583A variant (also known as c.1747T>G), located in coding exon 13 of the TRPM4 gene, results from a T to G substitution at nucleotide position 1747. The serine at codon 583 is replaced by alanine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005059241 SCV005714063 uncertain significance Progressive familial heart block type IB 2024-02-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 583 of the TRPM4 protein (p.Ser583Ala). 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. ClinVar contains an entry for this variant (Variation ID: 2236055). 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.

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