ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1017+1G>A (rs200407856)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198057 SCV000253860 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-10-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the CC2D2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with Joubert syndrome (PMID: 26092869, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 166801). 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.
UW Hindbrain Malformation Research Program,University of Washington RCV000201663 SCV000256347 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597652 SCV000700659 pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing

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