ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.497C>T (p.Thr166Met)

gnomAD frequency: 0.00011  dbSNP: rs147194821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854606 SCV002296332 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 166 of the CD79B protein (p.Thr166Met). This variant is present in population databases (rs147194821, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CD79B-related conditions. ClinVar contains an entry for this variant (Variation ID: 133840). 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"). 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.
ITMI RCV000120492 SCV000084645 not provided not specified 2013-09-19 no assertion provided reference population

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