Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002298439 | SCV002588005 | pathogenic | not provided | 2022-04-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 9475100, 30029678, 25682901, 33403612, 19089858, 31452935, 29779033, 17632512) |
Invitae | RCV002298439 | SCV004292647 | pathogenic | not provided | 2023-08-02 | 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: 9457). This premature translational stop signal has been observed in individual(s) with Donnai-Barrow syndrome (PMID: 17632512, 25682901). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg365*) in the LRP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRP2 are known to be pathogenic (PMID: 17632512, 25682901). |
OMIM | RCV000010065 | SCV000030286 | pathogenic | Donnai-Barrow syndrome | 2007-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010065 | SCV000041093 | not provided | Donnai-Barrow syndrome | no assertion provided | literature only |