ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)

dbSNP: rs104894770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485427 SCV000567155 pathogenic not provided 2015-08-20 criteria provided, single submitter clinical testing The R562P missense variant in the BTK gene has been reported previously in association withX-linked agammaglobulinemia (Vihinen et al., 1994; Curtis et al., 2000). This pathogenic variant occurs in the protein kinasedomain of the BTK protein near other residues with reported pathogenic variants (Vihinen et al.,1994). R562P impairs the kinase activity of the resulting protein despite a lack of effect on proteinlevels (Maniar et al., 1995). Additionally, the R562P variant was not observed in approximately6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. Therefore, we interpret R562P as a pathogenic variant.
OMIM RCV000012147 SCV000032381 pathogenic X-linked agammaglobulinemia 2000-01-31 no assertion criteria provided literature only

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