ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1926del (p.Thr643fs)

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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 RCV002875709 SCV003228124 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr643Leufs*6) in the BTK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the BTK protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BTK protein in which other variant(s) (p.Phe644Ser) have been determined to be pathogenic (PMID: 8695804, 32552675). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with BTK-related conditions. This variant is not present in population databases (gnomAD no frequency).

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