ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.240+109C>A

dbSNP: rs2147447393
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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 RCV002048069 SCV002289170 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2021-10-10 criteria provided, single submitter clinical testing 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. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 24658450). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant is also known as IVS3+109C>A. This variant has been observed in individual(s) with X-linked agammaglobulinemia (PMID: 24658450). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change falls in intron 3 of the BTK gene. It does not directly change the encoded amino acid sequence of the BTK protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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