ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)

gnomAD frequency: 0.00053  dbSNP: rs370794142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210410 SCV001381895 uncertain significance Imerslund-Grasbeck syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 450 of the AMN protein (p.Glu450Gly). This variant is present in population databases (rs370794142, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with AMN-related conditions. ClinVar contains an entry for this variant (Variation ID: 940760). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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.
Fulgent Genetics, Fulgent Genetics RCV002480695 SCV002775588 uncertain significance Imerslund-Grasbeck syndrome type 2 2022-05-20 criteria provided, single submitter clinical testing

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