ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.650C>A (p.Ala217Glu)

dbSNP: rs199476403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206942 SCV002933118 uncertain significance Dilated cardiomyopathy 1KK 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 217 of the MYPN protein (p.Ala217Glu). This variant is present in population databases (rs199476403, gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of MYPN-related conditions (PMID: 22286171). ClinVar contains an entry for this variant (Variation ID: 31813). 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. 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) RCV000024506 SCV000045810 not provided not provided 2012-04-27 no assertion provided curation
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206942 SCV000244048 uncertain significance Dilated cardiomyopathy 1KK 2013-06-27 no assertion criteria provided literature only

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