ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.293-7C>G

gnomAD frequency: 0.00003  dbSNP: rs193922544
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Total submissions: 2
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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 RCV000029651 SCV000052303 uncertain Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003904868 SCV004724582 uncertain significance CYP21A2-related disorder 2024-02-27 no assertion criteria provided clinical testing The CYP21A2 c.293-7C>G variant is predicted to interfere with splicing. This variant has been reported in the homo- or hemizygous status in an individual with salt wasting (SW) congenital adrenal hyperplasia (CAH) (Rubtsov et al. 2001. PubMed ID: 22497080; Concolino et al. 2017. PubMedID:28521877). This variant is reported in 0.15% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. Of note, this change is predicted to possibly alter splicing by splicing prediction programs (Alamut Visual v1.6.1). Minigene expression studies in cultured mammalian cells show this variant abolishes the acceptor site of intron 2 and results in intron retention (Rubtsov et al. 2001. PubMed ID: 22497080; Concolino et al. 2017. PubMedID:28521877). 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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