ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.536G>A (p.Arg179His)

gnomAD frequency: 0.00003  dbSNP: rs140259402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362438 SCV001558454 uncertain significance Joubert syndrome 15 2022-03-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 30841). This missense change has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 22246503). This variant is present in population databases (rs140259402, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 179 of the CEP41 protein (p.Arg179His).
OMIM RCV000023826 SCV000045117 pathogenic Joubert syndrome 12/15, digenic 2012-01-15 no assertion criteria provided literature only

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