ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.143T>A (p.Leu48His)

dbSNP: rs895572972
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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 RCV002027144 SCV002314696 uncertain significance Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 48 of the ARL6 protein (p.Leu48His). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1517164). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 RCV002486737 SCV002784850 uncertain significance Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55 2022-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746589 SCV005365935 uncertain significance ARL6-related disorder 2024-08-08 no assertion criteria provided clinical testing The ARL6 c.143T>A variant is predicted to result in the amino acid substitution p.Leu48His. To our knowledge, this variant has not been reported in the literature. This variant is absent from the seven main population groups 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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