ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.376A>G (p.Arg126Gly)

dbSNP: rs552020145
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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 RCV001314053 SCV001504568 uncertain significance Transcobalamin II deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 126 of the TCN2 protein (p.Arg126Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs552020145, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. 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.

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