ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg) (rs200026076)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794419 SCV000933824 uncertain significance Fanconi anemia 2019-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1156 of the FANCI protein (p.Gly1156Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200026076, ExAC 0.004%). This variant has not been reported in the literature in individuals with FANCI-related conditions. 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: Probably Damaging; Align-GVGD: Class C1). 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. 5
Illumina Laboratory Services,Illumina RCV001270866 SCV001451642 uncertain significance Fanconi anemia, complementation group I 2019-02-20 criteria provided, single submitter clinical testing The FANCI c.3466G>C (p.Gly1156Arg) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000070 in the European (Non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Gly1156Arg variant is classified as a variant of uncertain significance for Fanconi anemia.

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