Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001324814 | SCV001515780 | uncertain significance | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 17 of the ARL6 protein (p.Glu17Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ARL6-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. |
| Fulgent Genetics, |
RCV002493696 | SCV002781581 | uncertain significance | Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55 | 2021-09-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002545148 | SCV003758037 | uncertain significance | Inborn genetic diseases | 2022-12-15 | criteria provided, single submitter | clinical testing | The c.49G>A (p.E17K) alteration is located in exon 3 (coding exon 1) of the ARL6 gene. This alteration results from a G to A substitution at nucleotide position 49, causing the glutamic acid (E) at amino acid position 17 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |