Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074916 | SCV001240521 | uncertain significance | Retinal dystrophy | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862580 | SCV002129561 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 932 of the RPGRIP1 protein (p.Pro932Ala). This variant is present in population databases (rs773491339, gnomAD 0.02%). This missense change has been observed in individual(s) with Leber congenital amaurosis (Invitae). ClinVar contains an entry for this variant (Variation ID: 866687). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |