Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001947580 | SCV002175623 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-07-09 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1401620). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 249 of the RPGRIP1L protein (p.Gln249His). |
| Fulgent Genetics, |
RCV002482787 | SCV002784415 | uncertain significance | Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 | 2022-05-25 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004728917 | SCV005339822 | uncertain significance | RPGRIP1L-related disorder | 2024-06-10 | no assertion criteria provided | clinical testing | The RPGRIP1L c.747G>C variant is predicted to result in the amino acid substitution p.Gln249His. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |