ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2176T>C (p.Phe726Leu)

dbSNP: rs1555996810
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535980 SCV000629589 pathogenic Androgen resistance syndrome; Kennedy disease 2017-10-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense disrupts AR intra- and inter-molecular interactions, and decreases its transcriptional activation activity in cell culture (PMID: 11376111, 15541764, 16365032). This variant has been reported in individuals affected with partial androgen insensitivity syndrome and/or ambiguous genitalia (PMID: 7671849, 10092153, Invitae). This variant is also known as F725L in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 726 of the AR protein (p.Phe726Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine.

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