Submissions for variant NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) (rs778093769)

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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	RCV000765329	SCV000896590	uncertain significance	Fanconi anemia, complementation group A	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000476740	SCV000547749	uncertain significance	Fanconi anemia	2016-10-30	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 591 of the FANCA protein (p.Arg591Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs778093769, ExAC 0.2%) but has not been reported in the literature in individuals with a FANCA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it 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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