ClinVar Miner

Submissions for variant NM_004048.4(B2M):c.340A>C (p.Lys114Gln)

gnomAD frequency: 0.00011  dbSNP: rs372078625
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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 RCV001915346 SCV002171698 uncertain significance Hypoproteinemia, hypercatabolic 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 114 of the B2M protein (p.Lys114Gln). This variant is present in population databases (rs372078625, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with B2M-related conditions. ClinVar contains an entry for this variant (Variation ID: 1399008). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002482765 SCV002778774 uncertain significance Familial visceral amyloidosis, Ostertag type; Hypoproteinemia, hypercatabolic 2021-10-27 criteria provided, single submitter clinical testing

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