Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774192 | SCV000907893 | uncertain significance | Cardiomyopathy | 2023-05-19 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with histidine at codon 2826 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 two related individuals affected with severe dilated cardiomyopathy and conduction system disease, who also carried a truncation variant in the last exon of the TTN gene (PMID: 30012837). This variant has been identified in 1/247290 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. |
Center for Advanced Laboratory Medicine, |
RCV000852577 | SCV000995278 | uncertain significance | Primary dilated cardiomyopathy | 2019-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001856082 | SCV002264422 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-05-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442584 | SCV002677609 | uncertain significance | Cardiovascular phenotype | 2019-08-29 | criteria provided, single submitter | clinical testing | The p.R2826H variant (also known as c.8477G>A), located in coding exon 24 of the DSP gene, results from a G to A substitution at nucleotide position 8477. The arginine at codon 2826 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected in a family with dilated cardiomyopathy who also had additional variants in other cardiomyopathy-related genes (Cowan JR et al. Circ Genom Precis Med, 2018 07;11:e002038). 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. |
University of Washington Center for Mendelian Genomics, |
RCV000852577 | SCV001434727 | uncertain significance | Primary dilated cardiomyopathy | no assertion criteria provided | research |