Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814112 | SCV000954511 | pathogenic | Lethal multiple pterygium syndrome | 2022-08-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 657502). This variant has not been reported in the literature in individuals affected with CHRND-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala176Tyrfs*27) in the CHRND gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRND are known to be pathogenic (PMID: 11435464, 25264167). |