ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)

gnomAD frequency: 0.00001  dbSNP: rs765036744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327003 SCV001518060 uncertain significance Fanconi anemia 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 600 of the FANCA protein (p.Arg600Cys). This variant is present in population databases (rs765036744, gnomAD 0.01%). 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: 1026540). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002486317 SCV002778239 uncertain significance Fanconi anemia complementation group A 2022-02-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478784 SCV004221933 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing The variant has not been reported in individuals affected with FANCA-related disease in the published literature. The frequency of this variant in the general population, 0.000014 (4/282852 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.
Natera, Inc. RCV001327003 SCV002095009 uncertain significance Fanconi anemia 2020-11-03 no assertion criteria provided clinical testing

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