Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780220 | SCV000917311 | likely pathogenic | Cardiomyopathy | 2018-11-19 | criteria provided, single submitter | clinical testing | Variant summary: DSP c.5940dupC (p.Tyr1981LeufsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic/likely pathogenic by our laboratory (eg. c.6273delA/p.Ala2092fsX24). The variant was absent in 246194 control chromosomes. To our knowledge, no occurrence of c.5940dupC in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. 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 pathogenic. |
| Gene |
RCV001552629 | SCV001773350 | likely pathogenic | not provided | 2018-09-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; Multiple downstream frameshift and nonsense variants reported in the Human Gene Mutation Database in association with DSP-related disorders (Stenson et al., 2014), |