ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)

gnomAD frequency: 0.00001  dbSNP: rs757993614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294129 SCV001482945 uncertain significance Fanconi anemia complementation group F 2019-06-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863179 SCV002287691 uncertain significance Fanconi anemia 2023-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is present in population databases (rs757993614, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 113 of the FANCF protein (p.Gln113Arg). ClinVar contains an entry for this variant (Variation ID: 998326). 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 FANCF protein function. 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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