ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) (rs547223696)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808664 SCV000948778 uncertain significance Fanconi anemia 2018-12-15 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 825 of the FANCM protein (p.Ser825Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs547223696, ExAC 0.1%). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine 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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