Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000408090 | SCV000338226 | uncertain significance | not provided | 2016-01-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001305367 | SCV001494697 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2021-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 323 of the RPGRIP1 protein (p.Leu323Pro). This variant is present in population databases (rs199982906, gnomAD 0.02%). 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: 285276). 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 disruptive. 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. |
Genome- |
RCV001800649 | SCV002044900 | uncertain significance | Leber congenital amaurosis 6 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001800650 | SCV002044911 | uncertain significance | Cone-rod dystrophy 13 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519178 | SCV003719147 | uncertain significance | Inborn genetic diseases | 2022-09-29 | criteria provided, single submitter | clinical testing | The c.968T>C (p.L323P) alteration is located in exon 8 (coding exon 8) of the RPGRIP1 gene. This alteration results from a T to C substitution at nucleotide position 968, causing the leucine (L) at amino acid position 323 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |