ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2738A>G (p.Asn913Ser)

gnomAD frequency: 0.00001  dbSNP: rs749667228
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766255 SCV002008090 uncertain significance not provided 2019-09-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002440864 SCV002747775 uncertain significance Cardiovascular phenotype 2024-11-30 criteria provided, single submitter clinical testing The p.N913S variant (also known as c.2738A>G), located in coding exon 18 of the TRPM4 gene, results from an A to G substitution at nucleotide position 2738. The asparagine at codon 913 is replaced by serine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV002477997 SCV002788979 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2022-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003502603 SCV004247426 uncertain significance Progressive familial heart block type IB 2023-01-21 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1316349). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is present in population databases (rs749667228, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 913 of the TRPM4 protein (p.Asn913Ser).

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