ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly)

gnomAD frequency: 0.00040  dbSNP: rs112062713
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469693 SCV000543174 uncertain significance Joubert syndrome 8 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 421 of the ARL13B protein (p.Ser421Gly). This variant is present in population databases (rs112062713, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ARL13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 405194). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine 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.

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