Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001183194 | SCV001348852 | uncertain significance | Cardiomyopathy | 2020-01-13 | criteria provided, single submitter | clinical testing | This missense variant replaces histidine with arginine at codon 643 of the DSP protein. Computational prediction tool suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold ≤0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified 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 | RCV003293945 | SCV004007838 | uncertain significance | Cardiovascular phenotype | 2023-05-15 | criteria provided, single submitter | clinical testing | The p.H643R variant (also known as c.1928A>G), located in coding exon 15 of the DSP gene, results from an A to G substitution at nucleotide position 1928. The histidine at codon 643 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |