ClinVar Miner

Submissions for variant NM_000044.6(AR):c.241_242insCA (p.Glu81fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005224017 SCV005864205 pathogenic Androgen resistance syndrome; Kennedy disease 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu81Alafs*95) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AR-related conditions. For these reasons, this variant has been classified as Pathogenic.

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