ClinVar Miner

Submissions for variant NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) (rs128621207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000012139 SCV000695291 likely pathogenic X-linked agammaglobulinemia 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The c.1773C>A (p.Tyr591*) variant in BTK gene is a nonsense change that results in the loss of the 69 amino acids of NBN (~10%). This change is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from control datasets of ExAC or gnomAD. The variant has been reported in at least 1 affected individual with agammaglobulinemia with <1% peripheral B cells and is cited as Pathogenic cited by a reputable database/clinical laboratory. Taking together, the variant was classified as Likely Pathogenic.
OMIM RCV000012139 SCV000032373 pathogenic X-linked agammaglobulinemia 1994-10-01 no assertion criteria provided literature only

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