ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.810C>A (p.Asn270Lys)

gnomAD frequency: 0.00002  dbSNP: rs750050199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002022763 SCV002293204 uncertain significance Fanconi anemia 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 270 of the FANCL protein (p.Asn270Lys). This variant is present in population databases (rs750050199, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1503324). 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: "Probably Damaging"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change affects FANCL function (PMID: 32420600). 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.

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