ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.974+5G>C

dbSNP: rs2147430161
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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 RCV002048047 SCV002292691 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-07-26 criteria provided, single submitter clinical testing 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 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. ClinVar contains an entry for this variant (Variation ID: 1507314). This variant is also known as g.IVS11+5g>c. This variant has been observed in individuals with clinical features of X-linked agammaglobulinemia (XLA) (PMID: 18677443; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 11 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 disrupts the c.974+5G nucleotide in the BTK gene. Other variant(s) that disrupt this nucleotide have been observed in individuals with BTK-related conditions (PMID: 15661032), which suggests that this may be a clinically significant nucleotide.

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