ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.*13G>A

gnomAD frequency: 0.01770  dbSNP: rs6447
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711367 SCV000841729 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. Frequency data for this variant in the general population cannot be distinguished from that of the CYP21P pseudogene, and are therefore uninformative in assessment of variant pathogenicity (http://gnomad.broadinstitute.org). This variant has been seen in trans with other recessive pathogenic CYP21A2 variants in multiple individuals with congenital and also nonclassic forms of CAH. Assessment of experimental evidence regarding the effect of this variant on protein function is inconclusive. Results from PMID: 21521936 show a reduction in mRNA levels due to this variant, however, neither protein levels nor protein activity were assayed. This variant is also referred to by nucleotide 4397 in some published literature.
Fulgent Genetics, Fulgent Genetics RCV000764644 SCV000895752 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000764644 SCV001137084 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000764644 SCV005416767 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter clinical testing PM3_VeryStrong+PP4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725196 SCV001959734 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000711367 SCV001962890 likely benign not provided no assertion criteria provided clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000764644 SCV004099422 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2023-10-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004754538 SCV005349136 uncertain significance CYP21A2-related disorder 2024-06-15 no assertion criteria provided clinical testing The CYP21A2 c.*13G>A variant is located in the 3' untranslated region. This particular variant has been previously reported to be associated with a mild form of congenital adrenal hyperplasia (CAH) (Menabò et al. 2012. PubMed ID: 21521936). Its minor allele frequency is up to ~7.5% in East Asian individuals. However, this minor allele frequency is based on the current next-generation sequencing technology and may not be an accurate estimate because this variant is located within a highly homologous sequence region (Mandelker et al. 2016. PubMed ID: 27228465). Due to limited functional and genetic evidence, the clinical significance of the c.*13G>A variant is currently uncertain.

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