ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met)

gnomAD frequency: 0.00006  dbSNP: rs148006852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001853830 SCV002234547 uncertain significance Progressive familial heart block type IB 2024-10-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 911 of the TRPM4 protein (p.Thr911Met). This variant is present in population databases (rs148006852, gnomAD 0.02%). 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: 487616). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002491146 SCV002781063 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302897 SCV003996921 uncertain significance Cardiovascular phenotype 2023-04-11 criteria provided, single submitter clinical testing The p.T911M variant (also known as c.2732C>T), located in coding exon 18 of the TRPM4 gene, results from a C to T substitution at nucleotide position 2732. The threonine at codon 911 is replaced by methionine, an amino acid with similar properties. This variant co-occurred with variants in other cardiac-related genes in an individual with Wolff-Parkinson-White syndrome (Coban-Akdemir ZH et al. Am J Med Genet A, 2020 Jun;182:1387-1399). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656191 SCV000678385 uncertain significance Wolff-Parkinson-White pattern 2017-07-14 no assertion criteria provided research This variant was identified in an individual with Wolff-Parkinson-White syndrome

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