ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8300-1G>C (rs151279194)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178539 SCV000230636 likely pathogenic not provided 2016-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000178539 SCV000524825 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the C5orf42 gene. The c.8300-1 G>C variant was reported previously as a heterozygous variant in an unaffected parent in a study of children with developmental disorders (Fitzgerald et al., 2015). The c.8300-1 G>C variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The c.8300-1 G>C splice site variant destroys the canonical splice acceptor site in intron 42. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000778764 SCV000915131 uncertain significance Joubert syndrome 17 2018-10-09 criteria provided, single submitter clinical testing The C5orf42 c.8300-1G>C variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The variant is reported at a frequency of 0.000729 in the European (non-Finnish) population from the Genome Aggregation Database. 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 splice acceptor variants and the lack of clarifying evidence, this 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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