ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.253G>A (p.Val85Ile) (rs730881156)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534139 SCV000623799 uncertain significance Hypertrophic cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 85 of the TPM1 protein (p.Val85Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs730881156, ExAC 0.01%). This variant has not been reported in the literature in individuals with TPM1-related disease. ClinVar contains an entry for this variant (Variation ID: 181683). 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, 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.

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