ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly) (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 2016-12-24 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 421 of the ARL13B protein (p.Ser421Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs112062713, ExAC 0.1%) but has not been reported in the literature in individuals with an ARL13B-related disease. 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, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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