ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1142G>A (p.Arg381His)

gnomAD frequency: 0.00001  dbSNP: rs374232967
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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 RCV001870275 SCV002127299 uncertain significance Fanconi anemia complementation group E 2021-04-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs374232967, ExAC 0.001%). This sequence change replaces arginine with histidine at codon 381 of the FANCE protein (p.Arg381His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant has not been reported in the literature in individuals with FANCE-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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