ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)

gnomAD frequency: 0.00004  dbSNP: rs371812716
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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 RCV001295978 SCV001484931 uncertain significance Joubert syndrome 15 2022-10-04 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEP41 protein function. ClinVar contains an entry for this variant (Variation ID: 30843). This missense change has been observed in individual(s) with Joubert syndrome (PMID: 22246503). This variant is present in population databases (rs371812716, gnomAD 0.06%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 360 of the CEP41 protein (p.Arg360Cys).
OMIM RCV000023828 SCV000045119 pathogenic Joubert syndrome 9/15, digenic 2012-01-15 no assertion criteria provided literature only

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