ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro) (rs1568858210)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701643 SCV000830454 likely pathogenic Hypertrophic cardiomyopathy 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 135 of the TNNI3 protein (p.Leu135Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with dilated cardiomyopathy (Invitae). A computational algorithm designed to assess the pathogenicity of variants in TNNI3 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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