Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001217642 | SCV001389491 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 513 of the RPGRIP1 protein (p.Ala513Ser). This variant is present in population databases (rs763392584, gnomAD 0.004%). 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: 946719). 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: "Possibly 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. |
| Ambry Genetics | RCV004034039 | SCV005015342 | uncertain significance | Inborn genetic diseases | 2023-12-26 | criteria provided, single submitter | clinical testing | The c.1537G>T (p.A513S) alteration is located in exon 12 (coding exon 12) of the RPGRIP1 gene. This alteration results from a G to T substitution at nucleotide position 1537, causing the alanine (A) at amino acid position 513 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |