ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.637A>G (p.Ile213Val) (rs199476402)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223432 SCV000272190 uncertain significance not specified 2015-03-16 criteria provided, single submitter clinical testing The p.Ile213Val variant in MYPN has been reported in a Caucasian adult with infa ntile-onset DCM, but was not detected in her affected sister (Purevjav 2012). Th is variant was absent from large population studies. Computational prediction to ols and conservation analysis suggest that the p.Ile213Val variant may not impac t the protein, though this information is not predictive enough to rule out path ogenicity. In summary, the clinical significance of the p.Ile213Val variant is u ncertain.
Leiden Muscular Dystrophy (MYPN) RCV000024513 SCV000045817 not provided not provided 2012-04-27 no assertion provided curation
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206930 SCV000244004 uncertain significance Dilated cardiomyopathy 1KK 2013-06-27 no assertion criteria provided literature only

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