ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2566C>T (p.Arg856Cys) (rs886041132)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000294192 SCV000329079 pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing The R856C missense pathogenic variant in the AR gene has been reported previously as R855C in association withandrogen insensitivity syndrome (de Bellis et al., 1992; Ahmed et al., 2000; Ledig et al., 2005). The variant alters aresidue in the highly conserved ligand binding domain of the protein, and functional studies indicate that it impairsandrogen binding capacity (de Bellis et al., 1992; Ahmed et al., 2000).
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000584628 SCV000692169 pathogenic Androgen resistance syndrome 2004-03-23 no assertion criteria provided clinical testing

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