ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.373G>A (p.Val125Met)

gnomAD frequency: 0.00001  dbSNP: rs548487112
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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 RCV001338464 SCV001532131 uncertain significance Agammaglobulinemia 3, autosomal recessive 2020-01-18 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CD79A-related conditions. This variant is present in population databases (rs548487112, ExAC 0.03%). This sequence change replaces valine with methionine at codon 125 of the CD79A protein (p.Val125Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.
Mayo Clinic Laboratories, Mayo Clinic RCV002261345 SCV002541654 uncertain significance not provided 2021-08-10 criteria provided, single submitter clinical testing

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