Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000685468 | SCV000812950 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2021-08-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002386161 | SCV002693513 | pathogenic | Cardiovascular phenotype | 2019-08-16 | criteria provided, single submitter | clinical testing | The c.1282dupA pathogenic mutation, located in coding exon 11 of the DSP gene, results from a duplication of A at nucleotide position 1282, causing a translational frameshift with a predicted alternate stop codon (p.I428Nfs*3). This mutation has been detected in an individual with arrhythmogenic right ventricular cardiomyopathy who also had a variant in the JUP gene (ARVC) (Zhou X et al. Eur J Med Genet, 2015 Apr;58:258-65). Alterations in DSP that result in haploinsufficiency or protein truncation have been reported in patients with ARVC and dilated cardiomyopathy (DCM) (Fressart V et al. Europace. 2010;12(6):861-8; Elliott P et al. Circ Cardiovasc Genet. 2010;3(4):314-22; Quarta G et al. Circulation. 2011;123(23):2701-9; Garcia-Pavia P et al. Heart. 2011;97(21):1744-52; Rasmussen TB et al. Clin Genet. 2013;84(1):20-30; Pugh TJ et al. Genet Med. 2014;16(8):601-8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |