ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) (rs142869950)

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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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