ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2667C>T (p.Ser889=) (rs137852594)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059742 SCV001224386 pathogenic Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2019-12-24 criteria provided, single submitter clinical testing This sequence change affects codon 889 of the AR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AR protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with partial androgen insensitivity syndrome (PMID: 11397856, 20150575, 1158706). ClinVar contains an entry for this variant (Variation ID: 9850). This variant has been reported to disrupt splicing of the AR mRNA and result in a non-functional Androgen Receptor (PMID:11397856). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000010524 SCV000030750 pathogenic Androgen resistance syndrome 2001-06-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000010524 SCV000692140 pathogenic Androgen resistance syndrome 2001-11-27 no assertion criteria provided clinical testing

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