ClinVar Miner

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

dbSNP: 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 2019-10-21 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. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 220848). This variant is not present in population databases (ExAC no frequency).

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