Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194105 | SCV001363386 | likely benign | not specified | 2023-09-18 | criteria provided, single submitter | clinical testing | Variant summary: ACTC1 c.809-20_809-13dupTGTGTGTG alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation 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). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. This variant lies in a polymorphic region. Several other variants around this region have been found at a high frequency in gnomAD and has been classified as likely benign/benign in ClinVar. To our knowledge, no occurrence of c.809-20_809-13dupTGTGTGTG in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. At-least one co-occurrence with another pathogenic variant have been observed at our laboratory (TTN c.41592_41611del20, p.Val13865fsX10), providing supporting evidence for a benign role. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
| Labcorp Genetics |
RCV002069246 | SCV002380418 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2024-01-31 | criteria provided, single submitter | clinical testing |