ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1349+6T>G

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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 RCV003513688 SCV004300164 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2023-11-08 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the BTK gene. It does not directly change the encoded amino acid sequence of the BTK protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with agammaglobulinemia (PMID: 19904586). Variants that disrupt 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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