Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415250 | SCV000492694 | likely pathogenic | Cleft of soft palate; Clubfoot; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000627278 | SCV000748270 | pathogenic | not provided | 2018-03-20 | criteria provided, single submitter | clinical testing | The R680X variant in the PLOD2 gene has been reported previously, in trans with a missense variant, in an individual with a diagnosis of Bruck syndrome (Lv et al., 2018). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R680X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R680X as a pathogenic variant. |