ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2323C>T (p.Arg775Cys) (rs137852562)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056795 SCV001221259 pathogenic Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2019-01-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 775 of the AR protein (p.Arg775Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and families affected with complete androgen insensitivity syndrome (PMID: 9627582, 2082179, 28624954, 1609793, 20150575, 8990010, 12705360). In several of these individuals the variant was found to be de novo. This variant is also known as R774C, Arg774Cys, and Arg773Cys in the literature. ClinVar contains an entry for this variant (Variation ID: 9804). This variant has been reported to affect AR protein function (PMID: 2082179, 1609793). This variant disrupts the p.Arg775 amino acid residue in AR. Other variant(s) that disrupt this residue have been observed in individuals with AR-related conditions (PMID: 10690872, 1609793, 22334387, 24737579), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000010478 SCV000030704 pathogenic Androgen resistance syndrome 2013-10-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000010478 SCV000692162 pathogenic Androgen resistance syndrome 2013-07-12 no assertion criteria provided clinical testing

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