ClinVar Miner

Submissions for variant NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)

dbSNP: rs752055010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231121 SCV001403628 pathogenic Androgen resistance syndrome; Kennedy disease 2024-01-11 criteria provided, single submitter clinical testing This variant, c.170_172dup, results in the insertion of 1 amino acid(s) of the AR protein (p.Leu57dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752055010, gnomAD 0.007%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individual(s) with AR-related conditions (PMID: 25500996, 28261839; Invitae). In at least one individual the variant was observed to be de novo. This variant is also known as p.Leu57dup and p.57_58insLeu. ClinVar contains an entry for this variant (Variation ID: 958035). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002249821 SCV002518491 pathogenic Malignant tumor of prostate 2022-05-04 criteria provided, single submitter clinical testing

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