ClinVar Miner

Submissions for variant NM_004048.4(B2M):c.5C>T (p.Ser2Phe)

gnomAD frequency: 0.00001  dbSNP: rs368160918
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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 RCV000642237 SCV000763891 uncertain significance Hypoproteinemia, hypercatabolic 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2 of the B2M protein (p.Ser2Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs368160918, ExAC 0.01%). This variant has not been reported in the literature in individuals with B2M-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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