ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser)

gnomAD frequency: 0.00001  dbSNP: rs371171892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211477 SCV001383018 uncertain significance Fanconi anemia 2024-01-18 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 408 of the FANCG protein (p.Gly408Ser). This variant is present in population databases (rs371171892, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 941647). 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 FANCG protein function with a negative 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.
Genetic Services Laboratory, University of Chicago RCV001819899 SCV002067074 uncertain significance not specified 2018-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619558 SCV005113445 uncertain significance Inborn genetic diseases 2024-05-01 criteria provided, single submitter clinical testing The c.1222G>A (p.G408S) alteration is located in exon 10 (coding exon 10) of the FANCG gene. This alteration results from a G to A substitution at nucleotide position 1222, causing the glycine (G) at amino acid position 408 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828688 SCV002077448 uncertain significance Fanconi anemia complementation group G 2020-09-29 no assertion criteria provided clinical testing

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