Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480664 | SCV000571533 | uncertain significance | not provided | 2023-05-04 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function |
Ambry Genetics | RCV002395168 | SCV002700815 | uncertain significance | Cardiovascular phenotype | 2018-07-17 | criteria provided, single submitter | clinical testing | The c.1483_1485delGTGinsTTT variant (also known as p.V495F), located in coding exon 12 of the DSP gene, results from an in-frame deletion of GTG and insertion of TTT at nucleotide positions 1483 to 1485. This results in the substitution of the valine residue for a phenylalanine residue at codon 495, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002475939 | SCV002791824 | 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 | 2021-09-07 | criteria provided, single submitter | clinical testing |