Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622066 | SCV000736859 | uncertain significance | Cardiovascular phenotype | 2023-02-16 | criteria provided, single submitter | clinical testing | The p.T2665M variant (also known as c.7994C>T), located in coding exon 24 of the DSP gene, results from a C to T substitution at nucleotide position 7994. The threonine at codon 2665 is replaced by methionine, an amino acid with similar properties. This alteration has been reported in dilated cardiomyopathy (DCM) cohorts; however, clinical details were limited (Kühnisch J et al. Clin Genet, 2019 Dec;96:549-559; Verdonschot JAJ et al. Circ Genom Precis Med, 2020 Oct;13:476-487). This amino acid position is 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. |
Invitae | RCV000699495 | SCV000828208 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181546 | SCV001346720 | uncertain significance | Cardiomyopathy | 2023-12-13 | criteria provided, single submitter | clinical testing | This missense variant replaces threonine with methionine at codon 2665 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 individuals affected with dilated cardiomyopathy (PMID: 31568572, 32880476). This variant has also been identified in 11/282270 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. |
Fulgent Genetics, |
RCV002483708 | SCV002793274 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001529017 | SCV004163057 | uncertain significance | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001529017 | SCV001741743 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529017 | SCV001932261 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001529017 | SCV001955740 | uncertain significance | not provided | no assertion criteria provided | clinical testing |