ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu)

dbSNP: rs2053427139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218164 SCV001390036 uncertain significance Fanconi anemia 2019-05-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 396 of the FANCI protein (p.Lys396Glu). The lysine residue is highly 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 with FANCI-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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