Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000203129 | SCV000257965 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2015-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620457 | SCV000738138 | uncertain significance | Cardiovascular phenotype | 2017-09-19 | criteria provided, single submitter | clinical testing | The p.D1098E variant (also known as c.3294C>G), located in coding exon 23 of the DSP gene, results from a C to G substitution at nucleotide position 3294. The aspartic acid at codon 1098 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamic acid is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV001183800 | SCV001349627 | uncertain significance | Cardiomyopathy | 2022-12-12 | criteria provided, single submitter | clinical testing | This missense variant replaces aspartic acid with glutamic acid at codon 1098 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 not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 7/282210 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 | RCV001222455 | SCV001394553 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000998523 | SCV002074022 | uncertain significance | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |