ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1787T>C (p.Met596Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004723263 SCV005333291 likely pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital RCV003493994 SCV004023239 uncertain significance Common variable immunodeficiency no assertion criteria provided clinical testing This variant was found in an adult female patient with common variable immunodeficiency (CVID). The variant is absent from large population studies and there is no evidence of its functional effect. It is located in the kinase domain of the protein, which contains other pathogenic variants associated with X-linked agammaglobulinemia (XLA). We consider the c.1787T>C a Variant of Uncertain Significance.

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