ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.652A>G (p.Lys218Glu)

gnomAD frequency: 0.00001  dbSNP: rs370659315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946093 SCV002211244 uncertain significance Fanconi anemia complementation group E 2021-08-19 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 218 of the FANCE protein (p.Lys218Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. 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 RCV001946093 SCV002794254 uncertain significance Fanconi anemia complementation group E 2021-11-04 criteria provided, single submitter clinical testing

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