ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2602A>G (p.Lys868Glu)

gnomAD frequency: 0.00001  dbSNP: rs770342366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042514 SCV001206197 uncertain significance Fanconi anemia 2020-02-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs770342366, ExAC 0.003%). This sequence change replaces lysine with glutamic acid at codon 868 of the FANCM protein (p.Lys868Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant has not been reported in the literature in individuals with FANCM-related conditions. 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: "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.

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