Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001177319 | SCV001341513 | uncertain significance | Cardiomyopathy | 2019-11-17 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with leucine at codon 162 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). 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 been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 26743238). This variant has been identified in 4/282608 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 | RCV001852797 | SCV002169329 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003105782 | SCV003761937 | uncertain significance | not provided | 2022-07-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Laboratory for Molecular Medicine, |
RCV000038059 | SCV000061725 | uncertain significance | not specified | 2009-01-06 | no assertion criteria provided | clinical testing |