ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln) (rs142510905)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764519 SCV000895601 uncertain significance Joubert syndrome 8 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000657985 SCV000779756 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ARL13B gene. The R418Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R418Q variant is observed in 18/34400 (0.05%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The R418Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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