ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.464G>A (p.Arg155His) (rs201099560)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538510 SCV000626334 uncertain significance Fanconi anemia 2017-02-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 155 of the FANCG protein (p.Arg155His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs201099560, ExAC 0.08%). This variant has been reported in an individual affected with stomach cancer (PMID: 26689913). 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 histidine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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