ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1631+5G>C

dbSNP: rs1926404279
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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 RCV001064751 SCV001229669 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2020-02-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual affected with X-linked agammaglobulinemia (PMID: 19904586). In addition, other sequence changes affecting this same nucleotide have also been observed in individuals affected with X-linked agammaglobulinemia (PMID: 19419768, 14974089). This variant is also known as IVS16+5G>C in the literature. This sequence change falls in intron 16 of the BTK gene. It does not directly change the encoded amino acid sequence of the BTK protein, but it affects a nucleotide within the consensus splice site of the intron.

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