Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794903 | SCV000934338 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397584 | SCV002707249 | uncertain significance | Cardiovascular phenotype | 2019-07-31 | criteria provided, single submitter | clinical testing | The p.S523F variant (also known as c.1568C>T), located in coding exon 12 of the DSP gene, results from a C to T substitution at nucleotide position 1568. The serine at codon 523 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not 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. |