Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413878 | SCV000491072 | likely pathogenic | not provided | 2016-07-27 | criteria provided, single submitter | clinical testing | The c.7491_7492delTG variant in the DSP gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. The c.7491_7492delTG variant results in the deletion of two base pairs, which leads to the replacement of a Cysteine residue with a premature stop codon at position 2497, denoted C2497X. This variant is expected to result in the loss of the last 375 amino acids causing an abnormal, truncated protein product. Multiple other downstream truncating variants in the DSP gene have been reported in HGMD in association with DSP-related disorders, including dilated cardiomyopathy (Stenson et al., 2014). Furthermore, the c.7491_7492delTG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000413878 | SCV000924775 | likely pathogenic | not provided | 2017-08-16 | no assertion criteria provided | provider interpretation |