ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767965 SCV000898682 uncertain significance not provided 2018-02-21 criteria provided, single submitter clinical testing FANCM NM_020937.3 exon 14 p.Glu1244Gly (c.3731A>G): This variant has not been reported in the literature but is present in 3/125158 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs746030136). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000686815 SCV000814351 uncertain significance Fanconi anemia 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1244 of the FANCM protein (p.Glu1244Gly). 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 (rs746030136, ExAC 0.02%). This variant has not been reported in the literature in individuals with FANCM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine 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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