ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.463A>G (p.Met155Val) (rs730881074)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159226 SCV000209172 uncertain significance not provided 2014-08-18 criteria provided, single submitter clinical testing A M155V variant of unknown significance was identified in the TNNI3 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The M155V variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense mutation in the same residue (M155I) was identified in two unrelated Portuguese individuals, and was noted to co-segregate with hypertrophic cardiomyopathy (HCM) in the father of one these individuals (Santos et al., 2012). Furthermore, mutations in nearby residues (R145Q, S150C, A157V) have been reportedin association with HCM, supporting the functional importance of this region of the protein.Based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.The variant is found in DCM-CRDM panel(s).

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