ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1606A>G (p.Lys536Glu)

dbSNP: rs1603003195
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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 RCV000805943 SCV000945918 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 536 of the BTK protein (p.Lys536Glu). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BTK protein function. ClinVar contains an entry for this variant (Variation ID: 650738). This missense change has been observed in individual(s) with clinical features of agammaglobulinemia (Invitae). This variant is not present in population databases (gnomAD no frequency).

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