ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn)

dbSNP: rs200100002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001326738 SCV001517783 uncertain significance Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2022-06-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 110 of the ARL6 protein (p.Asp110Asn). This variant is present in population databases (rs200100002, gnomAD 0.003%). 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: 1026308). 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 RCV003399110 SCV004106049 uncertain significance ARL6-related condition 2023-04-10 criteria provided, single submitter clinical testing The ARL6 c.328G>A variant is predicted to result in the amino acid substitution p.Asp110Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-97503872-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Dept Of Ophthalmology, Nagoya University RCV003888028 SCV004705581 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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