ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.380A>G (p.Glu127Gly)

gnomAD frequency: 0.00001  dbSNP: rs1216924776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208167 SCV001379542 uncertain significance Fanconi anemia 2023-04-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 938869). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 127 of the FANCF protein (p.Glu127Gly). 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 RCV002497714 SCV002778015 uncertain significance Fanconi anemia complementation group F 2021-09-27 criteria provided, single submitter clinical testing

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