ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)

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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 RCV002775021 SCV003022154 uncertain significance Fanconi anemia complementation group E 2023-05-15 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 329 of the FANCE protein (p.Ala329Thr). This variant has not been reported in the literature in individuals affected 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. 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. ClinVar contains an entry for this variant (Variation ID: 1978284).

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