Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208261 | SCV000263869 | uncertain significance | Cardiac arrest | 2015-08-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617885 | SCV000738168 | uncertain significance | Cardiovascular phenotype | 2021-01-08 | criteria provided, single submitter | clinical testing | The p.E683K variant (also known as c.2047G>A), located in coding exon 15 of the DSP gene, results from a G to A substitution at nucleotide position 2047. The glutamic acid at codon 683 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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. |
Color Diagnostics, |
RCV001525885 | SCV001736088 | uncertain significance | Cardiomyopathy | 2022-12-21 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with lysine at codon 683 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 4/251168 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 | RCV001853298 | SCV002197382 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-24 | criteria provided, single submitter | clinical testing |