ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2324G>A (p.Arg775His) (rs137852572)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000010493 SCV000629591 pathogenic Androgen resistance syndrome 2017-05-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 775 of the AR protein (p.Arg775His). 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 (ExAC no frequency). This variant has been reported in individuals affected with androgen insensitivity syndrome (PMID: 1307250, 25613104, 10690872, 8723113, 20150575).  It has also been reported to segregate with disease in multiple families (PMID: 1609793, 24737579).  This variant has also been reported as p.Arg773His and p.Arg774His. ClinVar contains an entry for this variant (Variation ID: 9819). Experimental studies have shown that this variant affects androgen-binding activity of the AR protein (PMID: 1480178, 1609793, 1307250). A different missense substitution at this codon (p.Arg775Cys) has been determined to be pathogenic (PMID: 1307250, 1609793, 8723113, 20150575). 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 RCV000010493 SCV000030719 pathogenic Androgen resistance syndrome 1992-07-01 no assertion criteria provided literature only

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