ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) (rs758036385)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528326 SCV000634592 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2017-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1330 (p.Arg1330*) of the CC2D2A gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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