ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe)

dbSNP: rs1345207143
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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 RCV000818139 SCV000958737 uncertain significance Fanconi anemia complementation group E 2018-09-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCE-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with phenylalanine at codon 489 of the FANCE protein (p.Tyr489Phe). The tyrosine residue is moderately conserved and there is a small physicochemical difference between tyrosine and phenylalanine.

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