ClinVar Miner

Submissions for variant NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)

dbSNP: rs1602143232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796993 SCV000936530 pathogenic Androgen resistance syndrome; Kennedy disease 2018-08-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual affected with androgen insensitivity syndrome (PMID: 16283146). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln59*) in the AR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). For these reasons, this variant has been classified as Pathogenic.

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