Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001213456 | SCV001385087 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 1150 of the RPGRIP1 protein (p.Asp1150Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs144704092, ExAC 0.009%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV003163623 | SCV003887093 | uncertain significance | Inborn genetic diseases | 2023-01-24 | criteria provided, single submitter | clinical testing | The c.3448G>A (p.D1150N) alteration is located in exon 21 (coding exon 21) of the RPGRIP1 gene. This alteration results from a G to A substitution at nucleotide position 3448, causing the aspartic acid (D) at amino acid position 1150 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |