Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192936 | SCV000247858 | likely pathogenic | Donnai-Barrow syndrome | 2015-04-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731873 | SCV000859736 | likely pathogenic | not provided | 2018-02-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000192936 | SCV002786068 | likely pathogenic | Donnai-Barrow syndrome | 2022-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000731873 | SCV004278074 | pathogenic | not provided | 2023-07-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro4380Hisfs*46) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LRP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 211391). For these reasons, this variant has been classified as Pathogenic. |