ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2625+1G>A (rs1577372471)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798242 SCV000937845 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-09-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 21 of the CC2D2A 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 observed on the opposite chromosome (in trans) from a likely pathogenic variant in an individual affected with clinical features of Meckel-Gruber syndrome (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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 CC2D2A are known to be pathogenic (PMID: 19777577). For these reasons, this variant has been classified as Pathogenic.

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