ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.3913A>G (p.Met1305Val) (rs730880170)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157387 SCV000207125 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing
Invitae RCV000476557 SCV000553457 uncertain significance Dilated cardiomyopathy 1KK 2016-05-14 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1305 of the MYPN protein (p.Met1305Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs730880170, ExAC <0.01%) but has not been reported in the literature in individuals with a MYPN-related disease. ClinVar contains an entry for this variant (Variation ID: 180453). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The valine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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