Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000181314 | SCV000233608 | uncertain significance | not provided | 2013-08-27 | criteria provided, single submitter | clinical testing | p.Asn1234Ser (AAT>AGT): c.3701 A>G in exon 23 of the DSP gene (NM_004415.2). The Asn1234Ser variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Asn1234Ser results in a conservative amino acid substitution of one polar amino acid for another at a position that is mostly conserved in mammals. In silico analysis predicts Asn1234Ser is benign to the protein structure/function. No mutations in nearby residues have been reported in association with ARVC, indicating this region of the protein may be tolerant to change. The 1,000 genomes database identified Asn1234Ser with a frequency of 0.2%, 1/572 alleles, in individuals of Asian ancestry. However, the Asn1234Ser 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. With the clinical and molecular information available at this time, we cannot definitively determine if Asn1234Ser is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s). |
| Color Diagnostics, |
RCV000778030 | SCV000914142 | likely benign | Cardiomyopathy | 2018-10-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001079445 | SCV001010234 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-01-10 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004020190 | SCV005022534 | benign | Cardiovascular phenotype | 2023-12-07 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000181314 | SCV000924773 | likely benign | not provided | no assertion criteria provided | provider interpretation |