Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000181389 | SCV000233691 | uncertain significance | not provided | 2014-09-18 | criteria provided, single submitter | clinical testing | p.Gly2525Gly (GGC>GGT): c.7575 C>T in exon 24 of the DSP gene (NM_004415.2). The c.7575 C>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. While this variant results in a synonymous amino acid substitution (G2525G), in silico splice prediction programs predict that c.7575 C>T leads to the creation of a cryptic splice donor site. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the DSP gene have been reported in association with cardiomyopathy. Additionally, the c.7575 C>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s). |
| Ambry Genetics | RCV000620037 | SCV000736045 | likely benign | Cardiovascular phenotype | 2021-02-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Color Diagnostics, |
RCV001179623 | SCV001344331 | likely benign | Cardiomyopathy | 2019-03-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001852274 | SCV002173088 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-20 | criteria provided, single submitter | clinical testing |