ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp) (rs1555409523)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629029 SCV000749939 uncertain significance Hypertrophic cardiomyopathy 2017-09-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 203 of the TPM1 protein (p.Asn203Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. 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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