ClinVar Miner

Submissions for variant NM_004311.4(ARL3):c.446G>A (p.Arg149His)

dbSNP: rs770782663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487659 SCV000574862 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000487659 SCV004540519 pathogenic not provided 2023-03-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 424963). This missense change has been observed in individual(s) with Joubert syndrome (PMID: 30269812). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs770782663, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 149 of the ARL3 protein (p.Arg149His).
OMIM RCV000714512 SCV000845202 pathogenic Joubert syndrome 35 2018-10-30 no assertion criteria provided literature only

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