ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5957A>G (p.Glu1986Gly)

dbSNP: rs2144783330
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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 RCV002042216 SCV002110813 uncertain significance Epileptic encephalopathy 2020-11-24 criteria provided, single submitter clinical testing 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: "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. This variant has not been reported in the literature in individuals with FASN-related conditions. This sequence change replaces glutamic acid with glycine at codon 1986 of the FASN protein (p.Glu1986Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency).

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