ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.9471dup (p.Val3158fs) (rs765432713)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000368416 SCV000457331 uncertain significance Joubert syndrome 17 2016-07-25 criteria provided, single submitter clinical testing The C5orf42 c.9471dupT (p.Val3158CysfsTer6) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000016 in the European (non-Finnish) population of the Genome Aggregation Database. This frequency is based on two alleles in a region of good sequence coverage, so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Val3158CysfsTer6 variant is 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.

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