ClinVar Miner

Submissions for variant NM_000044.6(AR):c.220C>T (p.Gln74Ter) (rs886041129)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000328403 SCV000329074 pathogenic not provided 2016-10-14 criteria provided, single submitter clinical testing The Q74X nonsense variant in the AR gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 5,800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although Q74X has not been reported previously to our knowledge, we consider it to be pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583276 SCV000692139 pathogenic Androgen resistance syndrome 2012-12-26 no assertion criteria provided clinical testing

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