ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) (rs753229112)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630882 SCV000751854 uncertain significance Fanconi anemia 2017-12-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 559 of the FANCA protein (p.Glu559Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs753229112, ExAC 0.001%). This variant has not been reported in the literature in individuals with FANCA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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