Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807403 | SCV000947451 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-04-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg649*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). This variant is present in population databases (rs751477523, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Meckel-Gruber syndrome (PMID: 23351400). ClinVar contains an entry for this variant (Variation ID: 651948). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV001825602 | SCV002085712 | pathogenic | Familial aplasia of the vermis | 2021-04-02 | no assertion criteria provided | clinical testing |