ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)

gnomAD frequency: 0.00051  dbSNP: rs61744917
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704943 SCV000833916 uncertain significance Fanconi anemia 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 1167 of the FANCI protein (p.Cys1167Gly). This variant is present in population databases (rs61744917, gnomAD 0.2%). 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: 581189). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000765230 SCV000896466 uncertain significance Fanconi anemia complementation group I 2022-02-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000704943 SCV002529841 uncertain significance Fanconi anemia 2022-03-03 criteria provided, single submitter curation
Ambry Genetics RCV002534427 SCV003733013 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.3499T>G (p.C1167G) alteration is located in exon 32 (coding exon 31) of the FANCI gene. This alteration results from a T to G substitution at nucleotide position 3499, causing the cysteine (C) at amino acid position 1167 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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