ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)

gnomAD frequency: 0.00001  dbSNP: rs773070418
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630913 SCV000751886 uncertain significance Fanconi anemia 2024-04-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 980 of the FANCA protein (p.Ala980Val). This variant is present in population databases (rs773070418, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 526389). 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 expected to disrupt FANCA protein function with a positive 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002269293 SCV002047082 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing The variant has not been reported in individuals with FANCA-related conditions in the published literature. The frequency of this variant in the general population, 0.000035 (4/113712 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
GeneDx RCV002269293 SCV002552768 uncertain significance not provided 2022-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002492948 SCV002785649 uncertain significance Fanconi anemia complementation group A 2021-07-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000630913 SCV002092572 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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