ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1019C>A (p.Ser340Tyr)

dbSNP: rs777080663
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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 RCV000555605 SCV000659174 uncertain significance Dilated cardiomyopathy 1KK 2017-04-21 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 340 of the MYPN protein (p.Ser340Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYPN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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