ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn)

dbSNP: rs757995078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821434 SCV000962189 uncertain significance Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 47 of the ARL6 protein (p.Ile47Asn). This variant is not present in population databases (gnomAD no frequency). 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: 663541). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV005036220 SCV005659814 uncertain significance Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918280 SCV004732709 uncertain significance ARL6-related disorder 2023-12-26 no assertion criteria provided clinical testing The ARL6 c.140T>A variant is predicted to result in the amino acid substitution p.Ile47Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (1 allele; http://gnomad.broadinstitute.org/variant/3-97499019-T-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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