Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155791 | SCV000205502 | uncertain significance | not specified | 2013-09-18 | criteria provided, single submitter | clinical testing | The Met266Thr variant in DSP has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Compu tational analyses (biochemical amino acid properties, conservation, AlignGVGD, P olyPhen2, and SIFT) do not provide strong support for or against an impact to th e protein. Additional information is needed to fully assess the clinical signifi cance of this variant. |
Ambry Genetics | RCV002415667 | SCV002677211 | uncertain significance | Cardiovascular phenotype | 2021-06-08 | criteria provided, single submitter | clinical testing | The p.M266T variant (also known as c.797T>C), located in coding exon 7 of the DSP gene, results from a T to C substitution at nucleotide position 797. The methionine at codon 266 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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. |
Invitae | RCV003764958 | SCV004577895 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-09 | criteria provided, single submitter | clinical testing |