ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1160dup (p.Tyr387Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699701 SCV005203462 pathogenic Meckel syndrome, type 6 2024-07-31 criteria provided, single submitter clinical testing Variant summary: CC2D2A c.1160dupA (p.Tyr387X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. Loss of function variants in CC2D2A are an established mechanism for disease. The variant was absent in 247486 control chromosomes. To our knowledge, no occurrence of c.1160dupA in individuals affected with Meckel Syndrome Type 6 and/or CC2D2A-Related Disorders, and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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