ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)

dbSNP: rs863225171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201593 SCV000256340 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001207358 SCV001378703 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1250Glyfs*11) 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 premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217599). For these reasons, this variant has been classified as Pathogenic.

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