ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1774T>C (p.Ser592Pro)

dbSNP: rs1603001783
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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 RCV000819610 SCV000960278 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2018-07-30 criteria provided, single submitter clinical testing 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. 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 C0"). This variant has been observed in an individual affected with X-linked agammaglobulinemia (PMID: 8834236). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 592 of the BTK protein (p.Ser592Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline.

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