ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.869G>A (p.Arg290Lys)

gnomAD frequency: 0.00004  dbSNP: rs747078723
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760961 SCV001991635 uncertain significance not provided 2019-08-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001760961 SCV002011415 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001772538 SCV002180169 uncertain significance Fanconi anemia complementation group E 2022-05-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 290 of the FANCE protein (p.Arg290Lys). This variant is present in population databases (rs747078723, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1307543). 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 lysine 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 RCV001772538 SCV002783506 uncertain significance Fanconi anemia complementation group E 2022-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540319 SCV003732618 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.869G>A (p.R290K) alteration is located in exon 3 (coding exon 3) of the FANCE gene. This alteration results from a G to A substitution at nucleotide position 869, causing the arginine (R) at amino acid position 290 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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