ClinVar Miner

Submissions for variant NM_000061.2(BTK):c.472_475delACAG (p.Thr158Profs) (rs193922128)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029413 SCV000052063 likely pathogenic X-linked agammaglobulinemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000698891 SCV000827580 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2018-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr158Profs*17) in the BTK gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with X-linked agammaglobulinemia (PMID: 11742281, Invitae). This variant is also known as 604-607delACAG in the literature. ClinVar contains an entry for this variant (Variation ID: 35761). Loss-of-function variants in BTK are known to be pathogenic (PMID: 15661032, 16862044, 19419768). For these reasons, this variant has been classified as Pathogenic.

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