ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter)

dbSNP: rs145936761
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251206 SCV002521724 pathogenic 46,XY sex reversal 3 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): 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 NR5A1- related disorder (PMID: 31513305). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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