Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002582971 | SCV002935938 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-06-14 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 683 of the RPGRIP1 protein (p.Val683Met). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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. |
| Ambry Genetics | RCV002576442 | SCV003547636 | uncertain significance | Inborn genetic diseases | 2022-06-03 | criteria provided, single submitter | clinical testing | The c.2047G>A (p.V683M) alteration is located in exon 14 (coding exon 14) of the RPGRIP1 gene. This alteration results from a G to A substitution at nucleotide position 2047, causing the valine (V) at amino acid position 683 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |