Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586969 | SCV000698420 | uncertain significance | not provided | 2016-06-17 | criteria provided, single submitter | clinical testing | Variant summary: The DSP c.2415A>C (p.Glu805Asp) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was absent in 121396 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Ambry Genetics | RCV002456287 | SCV002736174 | uncertain significance | Cardiovascular phenotype | 2021-12-24 | criteria provided, single submitter | clinical testing | The p.E805D variant (also known as c.2415A>C), located in coding exon 17 of the DSP gene, results from an A to C substitution at nucleotide position 2415. The glutamic acid at codon 805 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
| All of Us Research Program, |
RCV004002431 | SCV004825027 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2023-08-15 | criteria provided, single submitter | clinical testing |