ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2567G>A (p.Arg856His) (rs9332971)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532628 SCV000639455 pathogenic Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2016-12-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 856 of the AR protein (p.Arg856His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (rs9332971, ExAC no frequency). This variant has been reported in individuals and families affected with partial androgen insensitivity syndrome (PMID: 8097257, 24737579, 1430233). This variant is also known as R853H and 2926G>A (R855H) in the literature. ClinVar contains an entry for this variant (Variation ID: 9823). An experimental study has shown that this missense change impairs ligand binding in vitro (PMID: 1430233). A different missense substitution at this codon (p.Arg856Cys) has been determined to be pathogenic (PMID: 24321103, 7581399). This suggests that the arginine residue is critical for AR protein function and that other missense substitutions at this position may also be pathogenic. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000010497 SCV000030723 pathogenic Partial androgen insensitivity syndrome 1993-03-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582251 SCV000692170 pathogenic Androgen resistance syndrome 2014-07-14 no assertion criteria provided clinical testing

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