ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)

gnomAD frequency: 0.00006  dbSNP: rs368098479
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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 RCV000824419 SCV000965317 uncertain significance Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 601 of the FANCG protein (p.Arg601Cys). This variant is present in population databases (rs368098479, 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: 666016). 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 RCV001271249 SCV002787480 uncertain significance Fanconi anemia complementation group G 2022-02-05 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001271249 SCV004171387 uncertain significance Fanconi anemia complementation group G 2023-11-06 criteria provided, single submitter clinical testing The FANCG c.1801C>T (p.Arg601Cys) missense change has a maximum subpopulation frequency of 0.012% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Natera, Inc. RCV001271249 SCV001452293 uncertain significance Fanconi anemia complementation group G 2020-09-16 no assertion criteria provided clinical testing

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