ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.152A>G (p.Lys51Arg) (rs1566937728)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701909 SCV000830732 uncertain significance Hypertrophic cardiomyopathy 2018-01-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 51 of the TPM1 protein (p.Lys51Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TPM1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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