Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001348447 | SCV001542751 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-03-27 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1171 of the RPGRIP1 protein (p.Ile1171Thr). This variant is present in population databases (rs202036914, gnomAD 0.01%). 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: 1044224). 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 | RCV003169711 | SCV003896125 | uncertain significance | Inborn genetic diseases | 2023-02-10 | criteria provided, single submitter | clinical testing | The c.3512T>C (p.I1171T) alteration is located in exon 21 (coding exon 21) of the RPGRIP1 gene. This alteration results from a T to C substitution at nucleotide position 3512, causing the isoleucine (I) at amino acid position 1171 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |