Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181364 | SCV000233665 | pathogenic | not provided | 2013-03-05 | criteria provided, single submitter | clinical testing | Although the c.3426dupG pathogenic variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Glutamine 1143, changing it to a Alanine, and creating a premature stop codon at position 7 of the new reading frame, denoted p.Gln1143AlafsX7. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the DSP gene have been reported in association with ARVC. |