ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)

gnomAD frequency: 0.00004  dbSNP: rs372854981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234010 SCV000288627 uncertain significance Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 98 of the FANCG protein (p.Arg98Gln). This variant is present in population databases (rs372854981, gnomAD 0.01%). 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: 239966). 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.
Fulgent Genetics, Fulgent Genetics RCV001833247 SCV002799577 uncertain significance Fanconi anemia complementation group G 2022-02-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833247 SCV002077479 uncertain significance Fanconi anemia complementation group G 2019-10-28 no assertion criteria provided clinical testing

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