Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000198805 | SCV000255357 | likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2Q | 2013-05-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000579104 | SCV000681058 | likely pathogenic | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | The R834X variant in the DHTKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R834X variant is observed in 1/16662 (0.006%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We interpret R834X as a likely pathogenic variant. |