ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2752del (p.His918fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796043 SCV000935534 uncertain significance Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2018-12-11 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the AR gene (p.His918Thrfs*26). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acids of the AR protein and extend the protein by an additional 8 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AR-related disease. The observation of one or more missense substitutions at or downstream of this variant (p.His918Arg) in affected individuals suggests that this may be a clinically significant region of the AR protein (PMID: 10690872, 18577874). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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