ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.523G>A (p.Val175Met)

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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 RCV003092805 SCV003481853 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-06-14 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 affected with CD79B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 175 of the CD79B protein (p.Val175Met).
PreventionGenetics, part of Exact Sciences RCV003420337 SCV004109885 uncertain significance CD79B-related disorder 2023-02-28 criteria provided, single submitter clinical testing The CD79B c.523G>A variant is predicted to result in the amino acid substitution p.Val175Met. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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