ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) (rs146040966)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472649 SCV000547823 uncertain significance Fanconi anemia 2018-07-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 422 of the FANCI protein (p.Gly422Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs146040966, ExAC 0.02%). This variant has been reported in an individual affected with Fanconi anemia (PMID: 23613520). In addition, a different variant (c.1264G>C) giving rise to the same protein effect observed here (p.Gly422Arg) has been reported in an individual suspected of being affected with Fanconi anemia (PMID: 17452773). ClinVar contains an entry for this variant (Variation ID: 408241). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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