ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2981C>T (p.Ser994Leu)

gnomAD frequency: 0.00001  dbSNP: rs575737661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929301 SCV002201850 uncertain significance Progressive familial heart block type IB 2023-08-22 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: 1426219). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is present in population databases (rs575737661, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 994 of the TRPM4 protein (p.Ser994Leu).
Ambry Genetics RCV002441051 SCV002746294 uncertain significance Cardiovascular phenotype 2021-07-22 criteria provided, single submitter clinical testing The p.S994L variant (also known as c.2981C>T), located in coding exon 20 of the TRPM4 gene, results from a C to T substitution at nucleotide position 2981. The serine at codon 994 is replaced by leucine, 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.
Fulgent Genetics, Fulgent Genetics RCV002484594 SCV002777462 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-08-23 criteria provided, single submitter clinical testing

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