ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.163T>C (p.Ser55Pro)

dbSNP: rs1603019607
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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 RCV000809057 SCV000949194 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 55 of the BTK protein (p.Ser55Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTK-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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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