ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.433del (p.Gln145fs)

dbSNP: rs2151872060
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002250931 SCV002521149 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Patient's phenotype is considered compatiblie with this disorder. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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