Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003555995 | SCV004292643 | pathogenic | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg3399*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Donnai-Barrow syndrome (PMID: 17632512). ClinVar contains an entry for this variant (Variation ID: 9455). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000010063 | SCV000030284 | pathogenic | Donnai-Barrow syndrome | 2007-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010063 | SCV000041092 | not provided | Donnai-Barrow syndrome | no assertion provided | literature only |