ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.640C>T (p.Leu214Phe)

gnomAD frequency: 0.00001  dbSNP: rs765926796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255791 SCV002527292 uncertain significance Fanconi anemia 2021-12-13 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002502062 SCV002814746 uncertain significance Fanconi anemia complementation group L 2022-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002255791 SCV003451192 uncertain significance Fanconi anemia 2023-11-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 214 of the FANCL protein (p.Leu214Phe). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1691891). 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 FANCL protein function with a positive predictive value of 80%. 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.

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