Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001891041 | SCV002164946 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-07-12 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1390524). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 839 of the RPGRIP1 protein (p.Ile839Val). |
| Ambry Genetics | RCV002553573 | SCV003612819 | uncertain significance | Inborn genetic diseases | 2022-03-29 | criteria provided, single submitter | clinical testing | The c.2515A>G (p.I839V) alteration is located in exon 16 (coding exon 16) of the RPGRIP1 gene. This alteration results from a A to G substitution at nucleotide position 2515, causing the isoleucine (I) at amino acid position 839 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |