ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) (rs757208121)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456449 SCV000553242 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2016-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 423 (p.Arg423*) of the CC2D2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CC2D2A are known to be pathogenic. This particular variant has been reported in a family with a nephronophthisis-related ciliopathy (PMID: 26673778). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000987416 SCV001136706 pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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