ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)

gnomAD frequency: 0.00001  dbSNP: rs778068203
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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 RCV001296465 SCV001485429 uncertain significance Fanconi anemia 2024-05-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 227 of the FANCL protein (p.Arg227Gly). This variant is present in population databases (rs778068203, 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: 1000349). 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.
Sema4, Sema4 RCV001296465 SCV002527295 uncertain significance Fanconi anemia 2021-12-01 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002486128 SCV002793365 uncertain significance Fanconi anemia complementation group L 2021-12-16 criteria provided, single submitter clinical testing

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