Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000622872 | SCV000740332 | uncertain significance | Primary familial dilated cardiomyopathy | 2017-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000796620 | SCV000936140 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185277 | SCV001351452 | uncertain significance | Cardiomyopathy | 2023-03-23 | criteria provided, single submitter | clinical testing | This missense variant replaces tyrosine with cysteine at codon 2770 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 27532257). This variant has been identified in 5/251412 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. |
Gene |
RCV002259357 | SCV002538711 | uncertain significance | not provided | 2022-05-26 | criteria provided, single submitter | clinical testing | Observed in an individual with ARVC in the published literature (Walsh et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27532257, 31402444) |
Ambry Genetics | RCV002431833 | SCV002681950 | uncertain significance | Cardiovascular phenotype | 2018-06-25 | criteria provided, single submitter | clinical testing | The p.Y2770C variant (also known as c.8309A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 8309. The tyrosine at codon 2770 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been reported in individual from an arrhythmogenic right ventricular cardiomyopathy (ARVC) genetic testing cohort; however, clinical details were not provided (Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is well 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. |