ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.664G>A (p.Val222Ile)

dbSNP: rs144588938
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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 RCV001985650 SCV002237610 uncertain significance Agammaglobulinemia 6, autosomal recessive 2021-01-21 criteria provided, single submitter clinical testing 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 has not been reported in the literature in individuals with CD79B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 222 of the CD79B protein (p.Val222Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.

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