ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.9701G>A (p.Gly3234Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002512282 SCV002821328 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FAT2: BP4, BS1
Invitae RCV002512282 SCV004271486 uncertain significance not provided 2023-09-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1879637). This variant has not been reported in the literature in individuals affected with FAT2-related conditions. This variant is present in population databases (rs369725513, gnomAD 0.009%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 3234 of the FAT2 protein (p.Gly3234Asp).

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