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
Invitae	RCV000476740	SCV000547749	uncertain significance	Fanconi anemia	2019-06-24	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%). This variant has not been reported in the literature in individuals with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 408177). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics	RCV000765329	SCV000896590	uncertain significance	Fanconi anemia, complementation group A	2018-10-31	criteria provided, single submitter	clinical testing

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