ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)

gnomAD frequency: 0.00001  dbSNP: rs776603588
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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 RCV000703301 SCV000832197 uncertain significance Fanconi anemia 2022-07-16 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 1077 of the FANCA protein (p.Met1077Lys). This variant is present in population databases (rs776603588, gnomAD 0.04%). 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: 579909). 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 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.
Fulgent Genetics, Fulgent Genetics RCV000765325 SCV000896585 uncertain significance Fanconi anemia complementation group A 2024-02-05 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238192 SCV002010187 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003238192 SCV005625471 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing The FANCA c.3230T>A (p.Met1077Lys) variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00048 (5/10340 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 predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV000765325 SCV001467608 uncertain significance Fanconi anemia complementation group A 2020-07-13 no assertion criteria provided clinical testing

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