ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val)

dbSNP: rs780954126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208097 SCV000264275 uncertain significance Conduction system disorder 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV001853317 SCV002179565 uncertain significance Progressive familial heart block type IB 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1113 of the TRPM4 protein (p.Leu1113Val). 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: 222855). 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.
Dept of Medical Biology, Uskudar University RCV003318369 SCV004021992 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, BP4

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