ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr)

gnomAD frequency: 0.00003  dbSNP: rs200466062
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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 RCV000466891 SCV000547699 uncertain significance Fanconi anemia 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 573 of the FANCG protein (p.Arg573Thr). This variant is present in population databases (rs200466062, gnomAD 0.07%). 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: 408137). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Natera, Inc. RCV001828465 SCV002085268 uncertain significance Fanconi anemia complementation group G 2019-10-28 no assertion criteria provided clinical testing

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