ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4315-6_4315-3del

dbSNP: rs926806639
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368996 SCV001565422 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-22 criteria provided, single submitter clinical testing This sequence change falls in intron 34 of the CC2D2A gene. It does not directly change the encoded amino acid sequence of the CC2D2A protein. 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: 1059667). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001574763 SCV001801635 likely pathogenic not provided 2021-03-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Heidelberg University RCV002271646 SCV002556338 likely pathogenic Meckel syndrome, type 6 2022-03-16 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002271646 SCV003807198 uncertain significance Meckel syndrome, type 6 2022-05-27 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated
PreventionGenetics, part of Exact Sciences RCV004531174 SCV004746981 uncertain significance CC2D2A-related disorder 2023-11-22 criteria provided, single submitter clinical testing The CC2D2A c.4315-6_4315-3delTCTT variant is predicted to result in an intronic deletion. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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