ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.292+1G>A

dbSNP: rs779144910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002250831 SCV002520945 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2022-05-22 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). . Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002250831 SCV005416020 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PM3_Strong+PP4

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