ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1759A>C (p.Met587Leu)

dbSNP: rs1603001822
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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 RCV000810388 SCV000950584 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2018-08-08 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 587 of the BTK protein (p.Met587Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with "leaky" X-linked agammaglobulinemia (XLA) (PMID: 7633420). 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: "Benign"; 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.

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