ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1705G>T (p.Gly569Trp) (rs1555982864)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640476 SCV000762068 uncertain significance Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 569 of the AR protein (p.Gly569Trp). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with complete androgen insensitivity syndrome (PMID: 7910529). This variant is also described as c.2064G>T (p.Gly568Trp). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Other missense substitutions at this codon (p.Gly569Arg and p.Gly568Glu) have been reported in individuals affected with complete androgen insensitivity syndrome (PMID: 27583472, 20150575). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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