ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)

dbSNP: rs1057521814
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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 RCV000801257 SCV000941028 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2020-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro566 amino acid residue in BTK. Other variant(s) that disrupt this residue have been observed in individuals with BTK-related conditions (PMID: 11438999, 27593100), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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 to be de novo in an individual affected with X-linked agammaglobulinemia (PMID: 23335184). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 566 of the BTK protein (p.Pro566Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.

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