ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8471-1G>C (rs1561376123)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698291 SCV000826947 pathogenic Orofaciodigital syndrome 6; Joubert syndrome 17 2018-06-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 43 of the C5orf42 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individuals affected with oral-facial-digital syndrome (PMID: 27081551, 27894351). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.

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