Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181346 | SCV000233644 | uncertain significance | not provided | 2021-11-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 199907; Landrum et al., 2016) |
Color Diagnostics, |
RCV001182504 | SCV001347970 | uncertain significance | Cardiomyopathy | 2023-03-16 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with glycine at codon 2437 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 3/282556 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 | RCV001215904 | SCV001387672 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381586 | SCV002669731 | uncertain significance | Cardiovascular phenotype | 2019-03-08 | criteria provided, single submitter | clinical testing | The p.E2437G variant (also known as c.7310A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 7310. The glutamic acid at codon 2437 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well 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. |