ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1355T>C (p.Leu452Pro)

dbSNP: rs2147427580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795624 SCV002034866 likely pathogenic X-linked agammaglobulinemia 2021-10-04 criteria provided, single submitter clinical testing The BTK c.1355T>C (p.Leu452Pro) variant is a missense variant that has been reported in at least two individuals with agammaglobulinemia (Speletas et al. 2001; Kuehn et al. 2016). This variant is not found in version 2.1.1 or version 3.1.1 of the Genome Aggregation Database despite its location in a region of good sequence coverage, which suggests the variant is rare. Evaluation of the crystal structure of the tyrosine kinase domain showed that the Leu452 residue is likely important in providing local structural stability (Mao et al. 2001). Multiple lines of computational evidence suggest that this variant may have a deleterious impact on the protein, though these predictions have not been confirmed experimentally. Based on the available evidence, the p.Leu452Pro variant is classified as likely pathogenic for X-linked agammaglobulinemia.

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