Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001704863 | SCV000233676 | likely benign | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21636032, 27532257, 24503780) |
| Invitae | RCV000528276 | SCV000641359 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000777828 | SCV000913826 | likely benign | Cardiomyopathy | 2018-10-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002408785 | SCV002675463 | likely benign | Cardiovascular phenotype | 2021-02-24 | 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. |
| Stanford Center for Inherited Cardiovascular Disease, |
RCV000181375 | SCV000280097 | uncertain significance | not specified | 2014-03-27 | no assertion criteria provided | clinical testing | Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. Given that the variant is novel, and the type of variant we consider this variant a varian of uncertain significance. Variants in DSP have been associated with cardiomyopathy, primarily ARVC but also some cases of DCM (which may be left-sided ARVC). To our knowledge, the variant is novel. This is an in-frame deletion of four amino acids. Only one in-frame deletion has been reported before in associated with ARVC in HGMD. A neighboring in-frame deletion of the same size (p.Ser2843_Arg2846del) was observed in 1 of 427 "ostensibly healthy" controls studied by Kapplinger et al (2011) and a patient with DCM in the LMM cohort who also carried variants in MYH6, TTN, ABCC9, DSG2, and MYL3 (Pugh et al 2014). This variant is not listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian and African American individuals (as of July 28th, 2014). However, this is not a reliable dataset for multi-nucleotide insertions or deletions. There variant is not listed in dbSNP (as of July 29th, 2014). |