ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)

dbSNP: rs201736026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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, Fulgent Genetics RCV005005175 SCV002781581 uncertain significance Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-05-13 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.
PreventionGenetics, part of Exact Sciences RCV004746325 SCV005351672 uncertain significance ARL6-related disorder 2024-09-27 no assertion criteria provided clinical testing The ARL6 c.49G>A variant is predicted to result in the amino acid substitution p.Glu17Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% 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.

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