ClinVar Miner

Submissions for variant NM_000044.6(AR):c.7G>A (p.Val3Met)

gnomAD frequency: 0.00002  dbSNP: rs778912582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001988640 SCV002276220 uncertain significance Androgen resistance syndrome; Kennedy disease 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 3 of the AR protein (p.Val3Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs778912582, ExAC 0.08%). This variant has not been reported in the literature in individuals affected with AR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002492261 SCV002783356 uncertain significance Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate 2022-02-09 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154053 SCV003843703 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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