Submissions for variant NM_022725.3(FANCF):c.573C>G (p.Ser191Arg) (rs146219377)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics,Fulgent Genetics	RCV000764967	SCV000896144	uncertain significance	Fanconi anemia, complementation group F	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000557500	SCV000626390	uncertain significance	Fanconi anemia	2017-10-19	criteria provided, single submitter	clinical testing	This sequence change replaces serine with arginine at codon 191 of the FANCF protein (p.Ser191Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs146219377, ExAC 0.1%) but has not been reported in the literature in individuals with a FANCF-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. 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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