Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000035561 | SCV000054762 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000035561 | SCV000059211 | likely benign | not specified | 2015-10-22 | criteria provided, single submitter | clinical testing | p.Arg1036Cys in exon 29 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 0.6% (58/9778) of African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61729664). |
Gene |
RCV000035561 | SCV000207993 | likely benign | not specified | 2017-11-28 | 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 | RCV001085534 | SCV000284238 | benign | Hypertrophic cardiomyopathy | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000252526 | SCV000320010 | likely benign | Cardiovascular phenotype | 2019-02-08 | criteria provided, single submitter | clinical testing | Other strong data supporting benign classification |
Integrated Genetics/Laboratory Corporation of America | RCV000035561 | SCV000696327 | benign | not specified | 2020-11-16 | criteria provided, single submitter | clinical testing | Variant summary: MYBPC3 c.3106C>T (p.Arg1036Cys) results in a non-conservative amino acid change located in the Immunoglobulin-like domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00042 in 245430 control chromosomes, predominantly at a frequency of 0.0056 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 6 fold of the estimated maximal expected allele frequency for a pathogenic variant in MYBPC3 causing Cardiomyopathy phenotype (0.001), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. c.3106C>T has been reported in the literature in individuals affected with Cardiomyopathy. These reports do not provide unequivocal conclusions about association of the variant with Cardiomyopathy. Ten clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000035561 | SCV000740364 | likely benign | not specified | 2017-03-30 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000625353 | SCV000745033 | likely benign | Familial hypertrophic cardiomyopathy 4 | 2017-07-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000586186 | SCV000842846 | benign | not provided | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Color | RCV000771353 | SCV000903642 | likely benign | Cardiomyopathy | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852648 | SCV000995353 | likely benign | Cardiomyopathy; Long QT syndrome | 2018-11-28 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000625353 | SCV001138289 | benign | Familial hypertrophic cardiomyopathy 4 | 2019-05-28 | criteria provided, single submitter | clinical testing |