ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1578C>A (p.Asn526Lys)

dbSNP: rs1569291237
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700307 SCV000829057 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2018-04-30 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 (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 been observed in individuals affected with X-linked agammaglobulinaemia (PMID: 27593100, 7711734). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 526 of the BTK protein (p.Asn526Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.