ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr)

dbSNP: rs1594815624
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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 RCV000821370 SCV000962125 uncertain significance Fanconi anemia 2018-12-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C0". The threonine 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. This variant has not been reported in the literature in individuals with FANCM-related conditions. This sequence change replaces arginine with threonine at codon 1773 of the FANCM protein (p.Arg1773Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine.

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