ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)

gnomAD frequency: 0.00006  dbSNP: rs142258123
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001146411 SCV001307154 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001149181 SCV001310119 uncertain significance Bardet-Biedl syndrome 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001296333 SCV001485293 uncertain significance Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 122 of the ARL6 protein (p.Arg122Gln). This variant is present in population databases (rs142258123, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ARL6-related conditions. ClinVar contains an entry for this variant (Variation ID: 900891). 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.
Preventiongenetics, part of Exact Sciences RCV003425951 SCV004118183 uncertain significance ARL6-related condition 2023-02-17 criteria provided, single submitter clinical testing The ARL6 c.365G>A variant is predicted to result in the amino acid substitution p.Arg122Gln. This variant has been previously reported as non-pathogenic and along with a homozygous frameshift variant in BBS12 gene in a family with Bardet-Biedl syndrome (Stoetzel et al. 2007. PubMed ID: 17160889; Muller et al. 2010. PubMed ID: 20177705). This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-97506849-G-A). 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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