Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000038048 | SCV000061714 | uncertain significance | not specified | 2011-08-22 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The Arg1509_Ser 1519del variant has not been reported in the literature but has been identified by our laboratory in 1 out of >200 Caucasian individuals sequenced to date. T his variant causes an in-frame deletion of 10 amino acids. While this is expect ed to severely impact the protein additional data such as control studies, segre gation data, or functional analysis is needed whether this variant is disease ca using. |
| Ambry Genetics | RCV000617801 | SCV000737876 | uncertain significance | Cardiovascular phenotype | 2021-07-27 | criteria provided, single submitter | clinical testing | The c.4527_4559del33 (p.R1509_S1519del) alteration is located in exon 23 (coding exon 23) of the DSP gene. This alteration consists of an in-frame deletion of 33 nucleotides between nucleotide positions c.4527 and c.4559, resulting in the deletion of 11 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV001179087 | SCV001343677 | uncertain significance | Cardiomyopathy | 2023-10-04 | criteria provided, single submitter | clinical testing | This variant causes an in-frame deletion of eleven amino acids in the central rod domain of the DSP protein that is thought to form a dimeric coiled coil. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified 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. |
| Labcorp Genetics |
RCV001246560 | SCV001419922 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-05-25 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 44913). 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.4527_4559del, results in the deletion of 11 amino acid(s) of the DSP protein (p.Arg1509_Ser1519del), but otherwise preserves the integrity of the reading frame. |
| CHEO Genetics Diagnostic Laboratory, |
RCV001179087 | SCV003838437 | uncertain significance | Cardiomyopathy | 2022-05-30 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003996343 | SCV004821488 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2024-02-05 | criteria provided, single submitter | clinical testing | This variant causes an in-frame deletion of eleven amino acids in the central rod domain of the DSP protein that is thought to form a dimeric coiled coil. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified 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. |