ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.842G>A (p.Trp281Ter)

dbSNP: rs2147431031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002243532 SCV003837568 likely pathogenic X-linked agammaglobulinemia 2023-01-03 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV002243532 SCV002507258 pathogenic X-linked agammaglobulinemia 2022-05-10 no assertion criteria provided clinical testing The variant c.842G>A (p.Trp281Ter) has been previously reported by Xiao-chuan Wang et al., in 2005. It not been observed in gnomAD and 1000g. In-silico bioinformatic software predict this variant by mutation taster as Disease causing. It has already The phenotype observed in the proband was fever, recurrent infections and had low IgG, IgM, IgA levels. Based on the phenotypic observation we classify this variant as pathogenic variant.

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