ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1606C>G (p.Pro536Ala) (rs1060501873)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465072 SCV000547719 uncertain significance Fanconi anemia, complementation group E 2016-09-21 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 536 of the FANCE protein (p.Pro536Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCE-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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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