ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)

dbSNP: rs2104794990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001935451 SCV002178417 uncertain significance Fanconi anemia 2021-06-24 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 282 of the FANCL protein (p.Gln282Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002507016 SCV002815439 uncertain significance Fanconi anemia complementation group L 2021-11-08 criteria provided, single submitter clinical testing

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