ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.107T>C (p.Met36Thr) (rs368178632)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000268974 SCV000466830 uncertain significance Joubert syndrome 15 2016-09-28 criteria provided, single submitter clinical testing The CEP41 c.107T>C (p.Met36Thr) variant is a missense variant that has been reported in a heterozygous state in one individual with Joubert syndrome (JS) who also carried a second heterozygous variant in another JS-associated gene (Lee et al. 2012). Digenic inheritance of JS has been previously reported (Parisi et al. 2013). Control data are unavailable for this variant, which is reported at a frequency of 0.00014 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Met36Thr variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Joubert syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000268974 SCV001223530 uncertain significance Joubert syndrome 15 2020-08-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 36 of the CEP41 protein (p.Met36Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs368178632, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of a ciliopathy spectrum disorder (PMID: 22246503). This variant is also known as p.36M>T in the literature. ClinVar contains an entry for this variant (Variation ID: 30842). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). 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.
GeneDx RCV001544767 SCV001763963 uncertain significance not provided 2020-07-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30664616, 22246503)
OMIM RCV000023827 SCV000045118 pathogenic Joubert syndrome 9/15, digenic 2012-01-15 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261715 SCV001439024 likely pathogenic Familial Autism Spectrum Disorder no assertion criteria provided research

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