ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.777-2A>G

dbSNP: rs193922129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029414 SCV000052064 likely pathogenic X-linked agammaglobulinemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001055502 SCV001219900 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-10-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects an acceptor splice site in intron 8 of the BTK gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BTK are known to be pathogenic (PMID: 15661032, 16862044, 19419768). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of X-linked agammaglobulinemia (PMID: 10844531, 19419768; Invitae). ClinVar contains an entry for this variant (Variation ID: 35762). For these reasons, this variant has been classified as Pathogenic.

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