ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1229T>C (p.Val410Ala) (rs199476406)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206980 SCV000776951 uncertain significance Dilated cardiomyopathy 1KK 2017-09-25 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 410 of the MYPN protein (p.Val410Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs199476406, ExAC 0.04%). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 22286171). ClinVar contains an entry for this variant (Variation ID: 31815). 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.
Leiden Muscular Dystrophy (MYPN) RCV000024508 SCV000045812 not provided not provided 2012-04-27 no assertion provided curation
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206980 SCV000244005 uncertain significance Dilated cardiomyopathy 1KK 2013-06-27 no assertion criteria provided literature only

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