ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.884G>A (p.Arg295His)

gnomAD frequency: 0.00001  dbSNP: rs375526911
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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 RCV000196730 SCV000255030 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 295 of the FANCL protein (p.Arg295His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs375526911, ExAC 0.08%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002492918 SCV002776102 uncertain significance Fanconi anemia complementation group L 2021-11-26 criteria provided, single submitter clinical testing

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