ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)

gnomAD frequency: 0.00003  dbSNP: rs142379991
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248615 SCV001422114 uncertain significance Fanconi anemia 2022-10-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1062 of the FANCA protein (p.Gly1062Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 972555). 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. 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.
Genome-Nilou Lab RCV001563818 SCV001786852 uncertain significance Fanconi anemia complementation group A 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819953 SCV002069972 uncertain significance not specified 2019-12-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001248615 SCV002534992 uncertain significance Fanconi anemia 2021-08-12 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001563818 SCV002782910 uncertain significance Fanconi anemia complementation group A 2021-10-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478757 SCV004218551 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in an individual with clear cell papillary renal cell carcinoma (PMID: 34512202 (2021)). The frequency of this variant in the general population, 0.000023 (3/129068 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the 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.
Natera, Inc. RCV001248615 SCV002092553 uncertain significance Fanconi anemia 2020-04-23 no assertion criteria provided clinical testing

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