ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1610G>T (p.Ter537Leu) (rs139547269)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648999 SCV000770820 uncertain significance Fanconi anemia, complementation group E 2017-10-05 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the FANCE mRNA. It is expected to extend the length of the FANCE protein by 27 additional amino acid residues. This variant is present in population databases (rs139547269, ExAC 0.05%). This variant has not been reported in the literature in individuals with FANCE-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the additional amino acids is currently unknown. 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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