ClinVar Miner

Submissions for variant NC_000006.11:g.(32006589_32006870)_(32007026_32007132)dup

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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 RCV004766497 SCV005380841 likely pathogenic Congenital adrenal hyperplasia 2024-08-08 criteria provided, single submitter clinical testing Variant summary: The variant involves the duplication of exon 3 in the CYP21A2 gene. A presumed nomenclature of c.(292+1_293-1)_(447+1_448-1)dup has been designated for the purposes of this classification. It is assumed to be a tandem duplication in direct orientation (PMIDs: 25640679, 30054569). This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). This duplication was not found in large population database (gnomAD Structural Variants database). To our knowledge, no occurrence of exon 3 duplication in individuals affected with Congenital Adrenal Hyperplasia 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 likely pathogenic.

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