ClinVar Miner

Submissions for variant NC_000006.11:g.(32006589_32006870)_(32007983_32008182)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 RCV004766516 SCV005380886 likely pathogenic Congenital adrenal hyperplasia 2024-08-08 criteria provided, single submitter clinical testing Variant summary: The variant involves the duplication of exons 3-7 in the CYP21A2 gene. A presumed nomenclature of c.(292+1_293-1)_(939+1_940-1)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). Duplication of exon 3-7 has been identified in a neonate who did not show any clinical or biochemical parameters suggestive of congenital adrenal hyperplasia (Dubey et al, 2022). 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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