Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875152 | SCV001017438 | likely benign | Hypertrophic cardiomyopathy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181732 | SCV001346934 | likely benign | Cardiomyopathy | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346023 | SCV002652021 | uncertain significance | Cardiovascular phenotype | 2019-03-18 | criteria provided, single submitter | clinical testing | The c.564-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 6 in the TPM1 gene. This alteration was reported in one individual with dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes (Pugh TJ et al. Genet. Med., 2014 Aug;16:601-8). This nucleotide position is not well conserved in available vertebrate species. The BDGP and ESEfinder in silico splicing models do not produce reliable predictions for the nearby native splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |