Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000641814 | SCV000763464 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-08-27 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 44891). 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 sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1047 of the DSP protein (p.Ala1047Val). |
| Color Diagnostics, |
RCV003531932 | SCV004363353 | uncertain significance | Cardiomyopathy | 2024-12-10 | criteria provided, single submitter | clinical testing | This missense variant replaces alanine with valine at codon 1047 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function. 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. |
| Ambry Genetics | RCV004017317 | SCV004849007 | uncertain significance | Cardiovascular phenotype | 2018-07-27 | criteria provided, single submitter | clinical testing | The c.3140C>T (p.A1047V) alteration is located in exon 23 (coding exon 23) of the DSP gene. This alteration results from a C to T substitution at nucleotide position 3140, causing the alanine (A) at amino acid position 1047 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Laboratory for Molecular Medicine, |
RCV000038026 | SCV000061692 | uncertain significance | not specified | 2009-06-15 | no assertion criteria provided | clinical testing |