Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000332245 | SCV000397760 | uncertain significance | Nephronophthisis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000389095 | SCV000397761 | uncertain significance | Meckel-Gruber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000292527 | SCV000397762 | uncertain significance | Familial aplasia of the vermis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734008 | SCV000862117 | uncertain significance | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001859902 | SCV002179237 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1121 of the RPGRIP1L protein (p.Pro1121Leu). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 319650). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |