ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr)

dbSNP: rs1926358194
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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 RCV001298997 SCV001488073 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2020-06-01 criteria provided, single submitter clinical testing This variant disrupts the p.Ser592 amino acid residue in BTK. Other variant(s) that disrupt this residue have been observed in individuals with BTK-related conditions (PMID: 30072168, 8834236), which suggests that this may be a clinically significant amino acid residue. 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 C15"). This variant has been observed in individual(s) with clinical features of X-linked agammaglobulinemia (PMID: 10844531, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 592 of the BTK protein (p.Ser592Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. 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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