ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) (rs1381740657)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700801 SCV000829573 pathogenic Orofaciodigital syndrome 6; Joubert syndrome 17 2017-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2234*) in the C5orf42 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with C5orf42-related disease. Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000778765 SCV000915132 uncertain significance Joubert syndrome 17 2018-04-24 criteria provided, single submitter clinical testing The C5orf42 c.6700C>T (p.Gln2234Ter) 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. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Joubert syndrome.

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