ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1300_1909-813del

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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 RCV001037029 SCV001200420 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2019-11-27 criteria provided, single submitter clinical testing This variant results in the deletion of exons 15-18 and part of exon 14 (c.1300_1909-813delinsTCACGTACAAG) of the BTK gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant has been observed in individual(s) with clinical features of Bruton agammaglobulinemia (Invitae). This variant disrupts the p.Arg525 amino acid residue in BTK. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9445504, 11742281, 19039656). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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