ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) (rs199865688)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617236 SCV000735119 likely benign Cardiovascular phenotype 2017-10-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000148656 SCV000051403 likely benign Primary familial hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000143914 SCV000188787 likely benign Paroxysmal atrial fibrillation 2014-09-04 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157313 SCV000207048 likely benign Primary dilated cardiomyopathy 2014-09-04 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148656 SCV000190372 likely benign Primary familial hypertrophic cardiomyopathy 2014-06-01 no assertion criteria provided research
Color RCV000771175 SCV000903107 likely benign Cardiomyopathy 2018-03-23 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000054796 SCV000883091 uncertain significance Left ventricular noncompaction 10 2018-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000035494 SCV000208097 likely benign not specified 2017-12-15 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 RCV000234059 SCV000284228 likely benign Hypertrophic cardiomyopathy 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035494 SCV000059144 likely benign not specified 2015-10-27 criteria provided, single submitter clinical testing p.Ala833Thr in exon 25 of MYBPC3: The significance of this variant was initially debated, as it was reported in 4 individuals with HCM, 3 of whom carried a seco nd variant (Morner 2003, Alders 2003, Andersen 2004, Van Driest 2004). Our labor atory has identified this variant in multiple individuals with various types of cardiomyopathies (HCM, DCM, and LVNC), some of whom also carried a second varian t. The frequent occurrence of a variant in conjunction with additional disease-c ausing variants argues against a pathogenic role when present in isolation as do es its identification in individuals with HCM, LVNC and DCM as these cardiomyopa thies are caused by different defects at the cellular level. Finally, this varia nt has been identified in 0.2% (182/66666) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199865688) . In summary, the overall evidence suggests that the p.Ala833Thr variant is like ly benign, though we cannot rule out that it may modify disease severity when pr esent with other cardiomyopathy variants.
OMIM RCV000054796 SCV000083041 pathogenic Left ventricular noncompaction 10 2010-04-01 no assertion criteria provided literature only
OMIM RCV000054797 SCV000083042 pathogenic Familial hypertrophic cardiomyopathy 4 2010-04-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.