ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)

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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 RCV003012260 SCV003313488 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-06-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CD79B-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 195 of the CD79B protein (p.Thr195Ser).

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