ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.12112G>A (p.Glu4038Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002988837 SCV003293814 uncertain significance not provided 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 4038 of the FAT2 protein (p.Glu4038Lys). This variant is present in population databases (rs138750878, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with FAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2078823). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV002988837 SCV004157438 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FAT2: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003936486 SCV004748260 likely benign FAT2-related disorder 2022-02-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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