ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly)

gnomAD frequency: 0.00003  dbSNP: rs781064333
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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 RCV001918357 SCV002181667 uncertain significance Fanconi anemia 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1407275). 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 FANCD2 protein function. 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. This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1140 of the FANCD2 protein (p.Val1140Gly). This variant is present in population databases (rs781064333, gnomAD 0.05%).
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154218 SCV003843365 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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