ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)

dbSNP: rs1603005139
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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 RCV000816130 SCV000956622 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2018-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp421*) 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 not been reported in the literature in individuals with BTK-related disease. A different variant (c.1263G>A) giving rise to the same protein effect observed here (p.Trp421*) has been observed in an individual affected with X-linked agammaglobulinemia (PMID: 9445504). 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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