ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3597_3600del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003791705 SCV004585084 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1199Metfs*6) in 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 (PMID: 19777577). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005038519 SCV005664553 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-01-20 criteria provided, single submitter clinical testing

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