ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.431-8_431-7delinsTG

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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 RCV002624492 SCV003516726 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-06-19 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CD79B-related conditions. This sequence change falls in intron 3 of the CD79B gene. It does not directly change the encoded amino acid sequence of the CD79B protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown.

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