ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002620383 SCV003506234 uncertain significance Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 51 of the ARL6 protein (p.Ile51Thr). This variant is present in population databases (rs371013474, gnomAD 0.0009%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C25". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV005028270 SCV005659815 uncertain significance Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2024-01-16 criteria provided, single submitter clinical testing

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