ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1021G>A (p.Gly341Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004977658 SCV005580673 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The p.G341S variant (also known as c.1021G>A), located in coding exon 8 of the FANCG gene, results from a G to A substitution at nucleotide position 1021. The glycine at codon 341 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040850 SCV005682149 uncertain significance Fanconi anemia complementation group G 2024-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005110249 SCV005771783 uncertain significance Fanconi anemia 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 341 of the FANCG protein (p.Gly341Ser). This variant is present in population databases (rs369622138, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FANCG protein function with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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