Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000621892 | SCV000737008 | uncertain significance | Cardiovascular phenotype | 2017-01-07 | criteria provided, single submitter | clinical testing | The c.8493_8504dup12 variant (also known as p.S2843_R2846dup) is located in coding exon 24 of the DSP gene. This variant results from an in-frame duplication of 12 nucleotides between positions 8493 to 8504. This results in the duplication of 4 residues between codons 2843 and 2846. These amino acid positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV001190261 | SCV001357712 | uncertain significance | Cardiomyopathy | 2023-10-12 | criteria provided, single submitter | clinical testing | This variant causes an in-frame duplication of 4 amino acids in the DSP protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with dilated cardiomyopathy who experienced a sudden cardiac arrest (PMID: 33652119). This variant has been identified in 3/247138 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Invitae | RCV001860379 | SCV002210183 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-27 | criteria provided, single submitter | clinical testing | This variant, c.8493_8504dup, results in the insertion of 4 amino acid(s) of the DSP protein (p.Ser2843_Arg2846dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs748194022, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 519066). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |