ClinVar Miner

Submissions for variant NM_004048.4(B2M):c.160G>A (p.Asp54Asn)

gnomAD frequency: 0.00001  dbSNP: rs148494241
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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 RCV001991019 SCV002266146 uncertain significance Hypoproteinemia, hypercatabolic 2021-08-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs148494241, ExAC 0.01%). This sequence change replaces aspartic acid with asparagine at codon 54 of the B2M protein (p.Asp54Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant has not been reported in the literature in individuals affected with B2M-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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