ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.602T>C (p.Met201Thr)

dbSNP: rs727504365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000154501 SCV002304352 uncertain significance Hypertrophic cardiomyopathy 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 201 of the TNNI3 protein (p.Met201Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 21533915, 27532257, 28771489). ClinVar contains an entry for this variant (Variation ID: 177863). 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154501 SCV000204172 likely pathogenic Hypertrophic cardiomyopathy 2013-02-13 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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