ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1179C>G (p.His393Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003886153 SCV004700573 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CYP21A2: PP2, BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004755030 SCV005364683 uncertain significance CYP21A2-related disorder 2024-07-25 no assertion criteria provided clinical testing The CYP21A2 c.1179C>G variant is predicted to result in the amino acid substitution p.His393Gln. This variant was reported with a 30kb deletion allele (reported as "large lesion") in an individual with salt-wasting (SW) congenital adrenal hyperplasia (CAH); and the functional study showed that this variant induced a significantly reduced 21‐hydroxylase activity (Xu et al. 2019. PubMed ID: 30968594). This variant is reported in 2.0% of alleles in individuals of East Asian descent in gnomAD. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. 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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