ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu)

dbSNP: rs1242729665
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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 RCV001982184 SCV002209828 uncertain significance Fanconi anemia complementation group E 2021-08-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with FANCE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 478 of the FANCE protein (p.Lys478Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.

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