ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.440G>A (p.Gly147Glu)

dbSNP: rs1220564322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231827 SCV001404360 uncertain significance Fanconi anemia complementation group E 2019-07-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 147 of the FANCE protein (p.Gly147Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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