Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000235632 | SCV000294308 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-09-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001764223 | SCV001989005 | uncertain significance | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | Reported in association with DCM; however, no additional clinical information was provided (Walsh et al., 2017); Reported in ClinVar as a variant of uncertain significance by another clinical laboratory (ClinVar Variant ID# 246666; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27532257) |
| Ambry Genetics | RCV002338776 | SCV002638137 | uncertain significance | Cardiovascular phenotype | 2021-12-17 | criteria provided, single submitter | clinical testing | The p.T1557M variant (also known as c.4670C>T), located in coding exon 23 of the DSP gene, results from a C to T substitution at nucleotide position 4670. The threonine at codon 1557 is replaced by methionine, an amino acid with similar properties. This alteration has been reported in a cardiomyopathy cohort with limited clinical details (Walsh R et al. Genet Med, 2017 02;19:192-203). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |