ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) (rs1555407795)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560434 SCV000623801 uncertain significance Hypertrophic cardiomyopathy 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 88 of the TPM1 protein (p.Leu88Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TPM1-related disease. Missense variants that are absent from the ExAC population database have been shown to be significantly overrepresented in individuals with hypertrophic and dilated cardiomyopathy (PMID: 27532257). A computational algorithm designed to assess the pathogenicity of variants in TPM1 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, this variant has uncertain impact on TPM1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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