ClinVar Miner

Submissions for variant NM_000901.5(NR3C2):c.2903dup (p.Pro969fs)

dbSNP: rs1578859390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008236 SCV001168002 likely pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing The c.2903dupT variant in the NR3C2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This frameshift variant replaces the typical last 16 amino acid residues in the NR3C2 protein with 44 different amino acid residues. This alteration may interfere with the proper formation and/or function of the NR3C2 protein. The c.2903dupT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2903dupT as a likely pathogenic variant.

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