ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) (rs782286004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778820 SCV000915210 uncertain significance Joubert syndrome 15 2018-10-31 criteria provided, single submitter clinical testing The CEP41 c.976C>T (p.Arg326Ter) variant is a stop-gained variant, which was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is located in the last exon and may escape nonsense-mediated decay. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg326Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for Joubert syndrome.
Invitae RCV000778820 SCV001513771 uncertain significance Joubert syndrome 15 2020-08-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CEP41 gene (p.Arg326*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acids of the CEP41 protein. This variant is present in population databases (rs782286004, ExAC 0.002%). This variant has not been reported in the literature in individuals with CEP41-related conditions. ClinVar contains an entry for this variant (Variation ID: 631996). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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