ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.682C>G (p.Gln228Glu)

dbSNP: rs1163522093
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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 RCV002006975 SCV002293842 uncertain significance Imerslund-Grasbeck syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 228 of the AMN protein (p.Gln228Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with AMN-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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