ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1751G>A (p.Gly584Glu)

dbSNP: rs1926361058
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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 RCV001062111 SCV001226888 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 584 of the BTK protein (p.Gly584Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with X-linked agammaglobulinemia (PMID: 25270678, 35382780). ClinVar contains an entry for this variant (Variation ID: 856612). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Studies have shown that this missense change does not affect mRNA splicing (PMID: 24586880, 28359783). 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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