ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.134A>G (p.His45Arg)

gnomAD frequency: 0.00002  dbSNP: rs767088554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772754 SCV001993372 uncertain significance not provided 2019-08-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002034478 SCV002186701 uncertain significance Fanconi anemia 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 45 of the FANCF protein (p.His45Arg). This variant is present in population databases (rs767088554, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCF-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 expected to disrupt FANCF protein function. ClinVar contains an entry for this variant (Variation ID: 1307899).

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