Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038321 | SCV000061990 | likely benign | not specified | 2009-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648307 | SCV000770121 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769472 | SCV000900867 | likely benign | Cardiomyopathy | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038321 | SCV000916412 | benign | not specified | 2018-01-25 | criteria provided, single submitter | clinical testing | Variant summary: The ACTC1 c.219C>T (p.Ile73Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Though one in silico tool predicts a damaging outcome for this variant, 5/5 splice prediction tools predict no significant impact on normal splicing, as well as ESE finder predicts that this variant doesnt affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 33/277206 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.000999 (24/24022). This frequency is about 40 times the estimated maximal expected allele frequency of a pathogenic ACTC1 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as likely 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 benign. |
Color Diagnostics, |
RCV000769472 | SCV001339617 | likely benign | Cardiomyopathy | 2018-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675594 | SCV001895817 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426569 | SCV002728105 | likely benign | Cardiovascular phenotype | 2018-06-01 | 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. |
Clinical Genetics, |
RCV000038321 | SCV001924070 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001675594 | SCV001971731 | likely benign | not provided | no assertion criteria provided | clinical testing |