ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1178T>C (p.Val393Ala)

gnomAD frequency: 0.11086  dbSNP: rs11596653
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172764 SCV000051576 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172764 SCV000170614 benign not specified 2013-12-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000172764 SCV000269385 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val393Ala in exon 6 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 33.2% (1464/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11596653).
Ambry Genetics RCV000247559 SCV000317988 benign Cardiovascular phenotype 2015-06-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081937 SCV000563304 benign Dilated cardiomyopathy 1KK 2025-02-03 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000172764 SCV000740637 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000024486 SCV005318771 benign not provided criteria provided, single submitter not provided
Leiden Muscular Dystrophy (MYPN) RCV000024486 SCV000045790 not provided not provided 2012-04-27 no assertion provided curation

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