ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala)

dbSNP: rs878855070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226346 SCV000290605 uncertain significance Fanconi anemia complementation group E 2016-03-27 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 353 of the FANCE protein (p.Pro353Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. In summary, this variant is a novel missense change with uncertain impact on protein function and mRNA splicing. It has been classified as a Variant of Uncertain Significance. 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"). However, algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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