Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002017701 | SCV002298141 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 573 of the RPGRIP1L protein (p.Ala573Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1509164). 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. |
| Fulgent Genetics, |
RCV002486678 | SCV002788496 | uncertain significance | Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 | 2021-12-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004046266 | SCV005015360 | uncertain significance | Inborn genetic diseases | 2023-11-10 | criteria provided, single submitter | clinical testing | The c.1717G>A (p.A573T) alteration is located in exon 15 (coding exon 14) of the RPGRIP1L gene. This alteration results from a G to A substitution at nucleotide position 1717, causing the alanine (A) at amino acid position 573 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |