Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194104 | SCV001363385 | likely benign | not specified | 2019-11-05 | criteria provided, single submitter | clinical testing | Variant summary: ACTC1 c.809-22_809-13del10 alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 106928 control chromosomes (gnomAD), however it is located to a highly polymorphic sequence region, and therefore the reported population frequency for the variant might not be reliable. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.809-22_809-13del10 in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported in the literature. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign. |
Invitae | RCV002069245 | SCV002426946 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2024-01-28 | criteria provided, single submitter | clinical testing |