ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs)

dbSNP: rs775292940
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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 RCV001964571 SCV002202981 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-07-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1508Serfs*9) 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 present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1427276). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005031912 SCV005664605 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-04-20 criteria provided, single submitter clinical testing

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