ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686258 SCV000813768 uncertain significance Fanconi anemia, complementation group E 2018-08-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 371 of the FANCE protein (p.Arg371Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs775076977, ExAC 0.03%). This variant has been observed as homozygous in several patients affected with Fanconi anemia (PMID: 17924555, 22778927), as well as a patient affected with head and neck squamous cell carcinoma (PMID: 28678401). Experimental studies have shown that this missense change in FANCE disrupts FANCD2 binding in yeast (PMID: 17308347). 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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