Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082003 | SCV000113938 | uncertain significance | not provided | 2013-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001345967 | SCV001540122 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 126 of the RPGRIP1 protein (p.Gly126Arg). This variant is present in population databases (rs375226924, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 95951). 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 RPGRIP1 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. |
Genome- |
RCV001800388 | SCV002045386 | uncertain significance | Leber congenital amaurosis 6 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001800389 | SCV002045397 | uncertain significance | Cone-rod dystrophy 13 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004019574 | SCV005015354 | uncertain significance | Inborn genetic diseases | 2022-12-02 | criteria provided, single submitter | clinical testing | The c.376G>C (p.G126R) alteration is located in exon 3 (coding exon 3) of the RPGRIP1 gene. This alteration results from a G to C substitution at nucleotide position 376, causing the glycine (G) at amino acid position 126 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |