Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145937 | SCV000193075 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857506 | SCV002159877 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with chondrodysplasia punctata (PMID: 10710233, 17625999). This variant is also known as R110X. ClinVar contains an entry for this variant (Variation ID: 158545). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg110*) in the EBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EBP are known to be pathogenic (PMID: 10391218). |