ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg)

gnomAD frequency: 0.00004  dbSNP: rs1207482417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071618 SCV001236930 uncertain significance Fanconi anemia 2021-09-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 102 of the FANCI protein (p.Gly102Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 864429). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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