ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.214C>T (p.Pro72Ser) (rs890865684)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476331 SCV000547726 uncertain significance Fanconi anemia, complementation group E 2016-05-22 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 72 of the FANCE protein (p.Pro72Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. While this variant is not present in population databases (ExAC, no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual 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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