ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.3124C>T (p.Arg1042Cys) (rs151282801)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228976 SCV000291118 likely benign Dilated cardiomyopathy 1KK 2015-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252987 SCV000319023 uncertain significance Cardiovascular phenotype 2013-11-18 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,Insufficient or conflicting evidence
GeneDx RCV000421407 SCV000536532 uncertain significance not provided 2018-12-10 criteria provided, single submitter clinical testing The R1042C variant of uncertain significance in the MYPN gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 74/126,676 alleles from individuals of European (non-Finnish) ancestry and 24/30,780 alleles from individuals of South Asian ancestry in large population cohorts (Lek et al., 2016). The R1042C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000228976 SCV000743690 uncertain significance Dilated cardiomyopathy 1KK 2016-08-22 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000228976 SCV000745064 uncertain significance Dilated cardiomyopathy 1KK 2017-05-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143934 SCV000188812 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-10-15 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000228976 SCV000732958 uncertain significance Dilated cardiomyopathy 1KK no assertion criteria provided clinical testing

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