ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)

dbSNP: rs868967798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367344 SCV001563691 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2020-03-08 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 597 of the BTK protein (p.Pro597Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BTK-related conditions.
GeneDx RCV001548637 SCV001768583 likely pathogenic not provided 2019-07-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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