ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.653A>G (p.Lys218Arg)

gnomAD frequency: 0.00013  dbSNP: rs148638909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001947485 SCV002127662 uncertain significance Fanconi anemia complementation group E 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 218 of the FANCE protein (p.Lys218Arg). This variant is present in population databases (rs148638909, gnomAD 0.03%). 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: 1367807). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCE 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 RCV001947485 SCV002788240 uncertain significance Fanconi anemia complementation group E 2022-05-05 criteria provided, single submitter clinical testing

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