ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) (rs780770356)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415250 SCV000492694 likely pathogenic Cleft of soft palate; Talipes equinovarus; 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
GeneDx 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.

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