ClinVar Miner

Submissions for variant NM_004311.4(ARL3):c.41C>G (p.Pro14Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005169342 SCV005801348 uncertain significance not provided 2024-10-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 14 of the ARL3 protein (p.Pro14Arg). This variant is present in population databases (rs781663223, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ARL3-related conditions. 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.

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