ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs)

dbSNP: rs1313708855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793158 SCV000932499 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1362Glyfs*4) 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: 640187). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036132 SCV005664585 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723184 SCV005335510 likely pathogenic CC2D2A-related disorder 2024-07-16 no assertion criteria provided clinical testing The CC2D2A c.4084dupG variant is predicted to result in a frameshift and premature protein termination (p.Ala1362Glyfs*4). To our knowledge, this variant has not been reported in individuals with CC2D2A-related disorders in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Loss-of-function variants in CC2D2A are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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