Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000636947 | SCV000758395 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 570 of the RPGRIP1L protein (p.Lys570Arg). This variant is present in population databases (rs111459222, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 530893). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPGRIP1L protein function. 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. |
| Gene |
RCV001549364 | SCV001769500 | uncertain significance | not provided | 2022-10-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Fulgent Genetics, |
RCV002483809 | SCV002793736 | uncertain significance | Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001271281 | SCV001452354 | uncertain significance | Familial aplasia of the vermis | 2020-09-16 | no assertion criteria provided | clinical testing |