ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) (rs71534278)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250407 SCV000318447 benign Cardiovascular phenotype 2017-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification,Subpopulation frequency in support of benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000157384 SCV000051413 likely benign Primary dilated cardiomyopathy 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000157384 SCV000207122 likely benign Primary dilated cardiomyopathy 2014-06-25 no assertion criteria provided clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000043541 SCV000244007 likely pathogenic Dilated cardiomyopathy 1KK 2013-06-27 no assertion criteria provided literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000183595 SCV000332270 likely benign not specified 2015-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000183595 SCV000236064 benign not specified 2017-04-17 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.
Invitae RCV000043541 SCV000291120 benign Dilated cardiomyopathy 1KK 2017-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000183595 SCV000270589 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing p.Pro1112Leu in exon 18 of MYPN: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (93/16504) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs71534278).
Leiden Muscular Dystrophy (MYPN) RCV000024484 SCV000045788 not provided not provided 2012-04-27 no assertion provided curation
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000183595 SCV000740641 uncertain significance not specified 2016-06-22 criteria provided, single submitter clinical testing
OMIM RCV000043541 SCV000071254 pathogenic Dilated cardiomyopathy 1KK 2012-05-01 no assertion criteria provided literature only
OMIM RCV000043542 SCV000071255 pathogenic Familial hypertrophic cardiomyopathy 22 2012-05-01 no assertion criteria provided literature only

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