ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) (rs376888740)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792843 SCV000932167 uncertain significance Fanconi anemia 2019-04-07 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 697 of the FANCA protein (p.Val697Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs376888740, ExAC 0.003%). This variant has been observed in an individual affected with Fanconi anemia (PMID: 29098742). Experimental studies have shown that this missense change complements the growth phenotype in FANCA-null cells and does not affect protein expression or nuclear localization (PMID: 29098742). 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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