ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.423-2A>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000023825 SCV000996177 pathogenic Joubert syndrome 15 2018-07-23 criteria provided, single submitter clinical testing This variant affects the canonical splice acceptor site of intron 6 and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has been previously reported as a homozygous change in a patient with Joubert Syndrome (PMID: 22246503). It is present in the heterozygous state in the gnomAD population database at 0.0008% (2/246208) and thus is presumed to be rare. In silico analyses support a deleterious effect of the c.423-2A>C variant on protein function. Based on the available evidence, the c.423-2A>C variant is classified as pathogenic.
OMIM RCV000023825 SCV000045116 pathogenic Joubert syndrome 15 2012-01-15 no assertion criteria provided literature only

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