Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001186294 | SCV001352675 | uncertain significance | Cardiomyopathy | 2023-11-28 | criteria provided, single submitter | clinical testing | This missense variant replaces aspartic acid with asparagine at codon 1732 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 dilated cardiomyopathy (PMID: 31983221). This variant has been identified in 5/282748 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 | RCV001230073 | SCV001402542 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336385 | SCV002643233 | uncertain significance | Cardiovascular phenotype | 2020-05-14 | criteria provided, single submitter | clinical testing | The p.D1732N variant (also known as c.5194G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 5194. The aspartic acid at codon 1732 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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. |
Fulgent Genetics, |
RCV002505219 | SCV002816792 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-09-16 | criteria provided, single submitter | clinical testing |