ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.650del (p.Gly217fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808341 SCV000948448 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly217Glufs*41) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746415983, ExAC 0.03%). This variant has been observed to be homozygous in an individual affected with COACH syndrome (PMID: 27848944). 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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