Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002908231 | SCV003249913 | uncertain significance | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2022-08-17 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 103 of the ARL6 protein (p.Val103Ala). This variant is present in population databases (rs761546116, gnomAD 0.002%). 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. |
| Ambry Genetics | RCV002895659 | SCV003661303 | uncertain significance | Inborn genetic diseases | 2021-07-13 | criteria provided, single submitter | clinical testing | The c.308T>C (p.V103A) alteration is located in exon 6 (coding exon 4) of the ARL6 gene. This alteration results from a T to C substitution at nucleotide position 308, causing the valine (V) at amino acid position 103 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005028008 | SCV005659824 | uncertain significance | Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2024-06-12 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004817134 | SCV005072772 | uncertain significance | Retinal dystrophy | 2022-01-01 | no assertion criteria provided | clinical testing | |
| Prevention |
RCV004747144 | SCV005367115 | uncertain significance | ARL6-related disorder | 2024-03-05 | no assertion criteria provided | clinical testing | The ARL6 c.308T>C variant is predicted to result in the amino acid substitution p.Val103Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |