ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)

gnomAD frequency: 0.00003  dbSNP: rs566306310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001667860 SCV001890904 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001667860 SCV002816879 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-09-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003482370 SCV004229567 uncertain significance not provided 2022-09-28 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with nonclassic congenital adrenal hyperplasia. In some published literature, this variant is referred to as p.Try47Cys. Computational tools predict that this variant is damaging.

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