ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1741G>T (p.Val581Phe)

dbSNP: rs1464184643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934951 SCV002136889 uncertain significance Dilated cardiomyopathy 1KK 2021-06-24 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 581 of the MYPN protein (p.Val581Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is not present in population databases (ExAC no frequency).

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