ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1443C>G (p.Tyr481Ter)

dbSNP: rs766161615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387509 SCV001588165 pathogenic Androgen resistance syndrome; Kennedy disease 2017-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 481 (p.Tyr481*) of the AR gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). However, a different variant (c.1443C>A), which also results in a premature termination codon at the same position (referred as Tyr480Stop in the literature), has been observed in an individual affected with androgen insensitivty syndrome (PMID: 10571951). For these reasons, this variant has been classified as Pathogenic.
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV000543473 SCV001960995 pathogenic Androgen resistance syndrome criteria provided, single submitter clinical testing

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