ClinVar Miner

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

gnomAD frequency: 0.00009  dbSNP: 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 2022-01-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1156 of the FANCI protein (p.Gly1156Arg). This variant is present in population databases (rs200026076, gnomAD 0.007%). This missense change has been observed in individual(s) with breast cancer (PMID: 30303537). ClinVar contains an entry for this variant (Variation ID: 641227). 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 C15"). 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.
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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