ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu)

gnomAD frequency: 0.00002  dbSNP: rs751027444
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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 RCV001047004 SCV001210932 uncertain significance Fanconi anemia 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1050 of the FANCD2 protein (p.Val1050Glu). This variant is present in population databases (rs751027444, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 844211). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FANCD2 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.
GeneDx RCV001759970 SCV001998790 uncertain significance not provided 2019-09-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV002489596 SCV002796940 uncertain significance Fanconi anemia complementation group D2 2022-05-18 criteria provided, single submitter clinical testing

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