Submissions for variant NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000685867	SCV000813367	uncertain significance	Fanconi anemia	2018-02-07	criteria provided, single submitter	clinical testing	This sequence change replaces phenylalanine with tyrosine at codon 836 of the FANCA protein (p.Phe836Tyr). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and tyrosine. This variant is present in population databases (rs142869950, ExAC 0.02%). This variant has not been reported in the literature in individuals with 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: "Tolerated"; 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.

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