ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.8000G>C (p.Gly2667Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003106399 SCV003781763 uncertain significance not provided 2023-07-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2414066). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2667 of the FAT2 protein (p.Gly2667Ala). This variant is present in population databases (rs199617774, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FAT2-related conditions. 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 FAT2 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.
CeGaT Center for Human Genetics Tuebingen RCV003106399 SCV003917003 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing FAT2: BP4

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