ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)

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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 RCV003621436 SCV004460045 uncertain significance Fanconi anemia complementation group E 2023-09-05 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 460 of the FANCE protein (p.Arg460Gln). This variant is present in population databases (rs541746126, gnomAD 0.007%). This missense change has been observed in individual(s) with pituitary stalk interruption syndrome (PMID: 33270637). 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 not expected to disrupt FANCE protein function.

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