Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000641785 | SCV000763434 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-09-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 534287). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DSP-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.3499_3501del, results in the deletion of 1 amino acid(s) of the DSP protein (p.Lys1167del), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV002458061 | SCV002612914 | uncertain significance | Cardiovascular phenotype | 2020-10-21 | criteria provided, single submitter | clinical testing | The c.3499_3501delAAG variant (also known as p.K1167del) is located in coding exon 23 of the DSP gene. This variant results from an in-frame AAG deletion at nucleotide positions 3499 to 3501. This results in the in-frame deletion of a lysine at codon 1167. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |