ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.226A>G (p.Lys76Glu) (rs1555403432)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560089 SCV000623798 uncertain significance Hypertrophic cardiomyopathy 2017-05-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 76 of the TPM1 protein (p.Lys76Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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, 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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