ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs)

dbSNP: rs1471484901
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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 RCV001072004 SCV001237346 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe744Glnfs*30) 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: 864745). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005029671 SCV005662411 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-03-08 criteria provided, single submitter clinical testing

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