ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) (rs863225171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201593 SCV000256340 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
Invitae RCV001207358 SCV001378703 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1250Glyfs*11) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with Joubert syndrome (PMID: 26092869). 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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