ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)

dbSNP: rs587778322
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671628 SCV000796618 uncertain significance Fanconi anemia complementation group A 2017-12-20 criteria provided, single submitter clinical testing
Invitae RCV001214292 SCV001385967 uncertain significance Fanconi anemia 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 1439 of the FANCA protein (p.Arg1439Thr). This variant is present in population databases (rs587778322, gnomAD 0.003%). 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: 134285). 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 RCV000671628 SCV002779149 uncertain significance Fanconi anemia complementation group A 2021-09-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477511 SCV004218616 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.0000081 (2/248020 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in healthy individuals of African descent (PMID: 24728327 (2014)). 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.
ITMI RCV000120958 SCV000085126 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001214292 SCV002092460 uncertain significance Fanconi anemia 2020-08-27 no assertion criteria provided clinical testing

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