ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)

gnomAD frequency: 0.00019  dbSNP: rs147390386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556590 SCV000650813 uncertain significance Fanconi anemia complementation group E 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 531 of the FANCE protein (p.Leu531Met). This variant is present in population databases (rs147390386, gnomAD 0.06%). 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: 471923). 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"). 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 RCV000556590 SCV002816675 uncertain significance Fanconi anemia complementation group E 2021-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424132 SCV004117273 uncertain significance FANCE-related disorder 2023-09-22 criteria provided, single submitter clinical testing The FANCE c.1591T>A variant is predicted to result in the amino acid substitution p.Leu531Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-35434102-T-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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