ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.591+4A>T

dbSNP: rs2144755829
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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 RCV001948770 SCV002217337 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-02-10 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 is not likely to affect RNA splicing. 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. This variant has not been reported in the literature in individuals affected with CD79B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the CD79B gene. It does not directly change the encoded amino acid sequence of the CD79B protein. It affects a nucleotide within the consensus splice site.

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