Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001177880 | SCV001342173 | uncertain significance | Cardiomyopathy | 2023-03-22 | criteria provided, single submitter | clinical testing | This missense variant replaces isoleucine with threonine at codon 870 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 27532257). This variant has been identified in 1/251396 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 | RCV001875865 | SCV002289028 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-05-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436738 | SCV002745539 | uncertain significance | Cardiovascular phenotype | 2020-07-23 | criteria provided, single submitter | clinical testing | The p.I870T variant (also known as c.2609T>C), located in coding exon 18 of the DSP gene, results from a T to C substitution at nucleotide position 2609. The isoleucine at codon 870 is replaced by threonine, an amino acid with similar properties. This variant was identified in one individual with arrhythmogenic right ventricular cardiomyopathy in a large study of pathogenicity of Mendelian variants in cardiomyopathy patients; however, clinical details were limited (Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |