ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2296G>A (p.Ala766Thr) (rs1555996863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791383 SCV000629590 pathogenic Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 766 of the AR protein (p.Ala766Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with complete androgen insensitivity syndrome (PMID: 1307250, 25613104, 10690872, 8723113, 9328206, 25248670, 27899157, 9856504, 15925895, 15531547). Several experimental studies have shown that this missense change abolishes androgen receptor activity (PMID: 1307250, 10690872, 9328206, 9856504, 15531547). For these reasons, this variant has been classified as Pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000546202 SCV000692159 pathogenic Androgen resistance syndrome 2010-03-26 no assertion criteria provided clinical testing

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