Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035417 | SCV000059065 | likely benign | not specified | 2009-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000035417 | SCV000170432 | benign | not specified | 2012-04-25 | 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. |
Ambry Genetics | RCV000252124 | SCV000319077 | likely benign | Cardiovascular phenotype | 2016-08-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586805 | SCV000696316 | likely benign | not provided | 2017-06-22 | criteria provided, single submitter | clinical testing | Variant summary: The MYBPC3 c.1602G>A (p.Ala534Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 21/107376 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.00143 (13/9094). This frequency is about 1.5 times the estimated maximal expected allele frequency of a pathogenic MYBPC3 variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign. |
Invitae | RCV001079962 | SCV001009829 | benign | Hypertrophic cardiomyopathy | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183483 | SCV001349227 | likely benign | Cardiomyopathy | 2019-06-10 | criteria provided, single submitter | clinical testing |