ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)

gnomAD frequency: 0.00007  dbSNP: rs369058619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476737 SCV000547812 uncertain significance Fanconi anemia 2022-10-08 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 1316 of the FANCI protein (p.Gly1316Arg). This variant is present in population databases (rs369058619, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This missense change has been observed to co-occur in individuals with a different variant in FANCI that has been determined to be pathogenic (Invitae), but the significance of this finding is unclear. ClinVar contains an entry for this variant (Variation ID: 408231). 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 arginine 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 RCV000765231 SCV000896467 uncertain significance Fanconi anemia complementation group I 2018-10-31 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223211 SCV002501464 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002223211 SCV005193983 uncertain significance not provided criteria provided, single submitter not provided

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