ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) (rs878853665)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226672 SCV000283567 uncertain significance Fanconi anemia 2016-03-02 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 1302 of the FANCA protein (p.Trp1302Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Fanconi anemia (PMID: 9371798). Experimental studies have shown that this missense change causes defects in cellular localization, phosphorylation, and interaction of the FANCA protein with its partner molecules, and also leads to enhanced binding to Hsp90 (PMID: 12444097, 17327415). In summary, this variant has been reported in an affected individual and it disrupts protein function in vitro. However, the available evidence is currently insufficient to conclusively determine the role of this variant in disease. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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