ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.511A>C (p.Ile171Leu) (rs774903903)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203900 SCV000261725 uncertain significance Hypertrophic cardiomyopathy 2015-10-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 171 of the TPM1 protein (p.Ile171Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. A computational algorithm designed to assess the pathogenicity of variants in TPM1 with regard to hypertrophic cardiomyopathy predicted this sequence change to be tolerated. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275) In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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