ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1418T>C (p.Ile473Thr)

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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 RCV003181816 SCV003858012 uncertain significance Cardiovascular phenotype 2022-12-06 criteria provided, single submitter clinical testing The p.I473T variant (also known as c.1418T>C), located in coding exon 11 of the TRPM4 gene, results from a T to C substitution at nucleotide position 1418. The isoleucine at codon 473 is replaced by threonine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005101021 SCV005823148 uncertain significance Progressive familial heart block type IB 2024-11-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 473 of the TRPM4 protein (p.Ile473Thr). This variant is present in population databases (rs138686218, gnomAD 0.006%). 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: 2448581). 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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