ClinVar Miner

Submissions for variant NM_020547.3(AMHR2):c.238C>T (p.Arg80Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283638 SCV002572585 pathogenic Persistent Mullerian duct syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Stop-gained (nonsense) is 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. The variant has been reported to be associated with AMHR2-related disorder (PMID: 8872466). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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