Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770239 | SCV000901670 | uncertain significance | Cardiomyopathy | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001046792 | SCV001210708 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770239 | SCV001352638 | uncertain significance | Cardiomyopathy | 2023-03-31 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with glutamine at codon 1400 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 DSP-related disorders in the literature. This variant has been identified in 5/282572 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. |
Ambry Genetics | RCV002332549 | SCV002628594 | uncertain significance | Cardiovascular phenotype | 2023-07-13 | criteria provided, single submitter | clinical testing | The p.R1400Q variant (also known as c.4199G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 4199. The arginine at codon 1400 is replaced by glutamine, an amino acid with highly 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. |
Fulgent Genetics, |
RCV002493405 | SCV002784300 | 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 | 2021-08-23 | criteria provided, single submitter | clinical testing |