ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1408A>G (p.Lys470Glu)

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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 RCV002885606 SCV003241772 uncertain significance Fanconi anemia 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 470 of the FANCG protein (p.Lys470Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs769402230, ExAC 0.003%). This variant has not been reported in the literature in individuals with FANCG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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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