ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8280A>C (p.Lys2760Asn)

gnomAD frequency: 0.00001  dbSNP: rs750907829
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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 RCV000998293 SCV001154280 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
Invitae RCV000998293 SCV002130523 uncertain significance not provided 2021-09-17 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 not expected to disrupt FAT4 protein function. ClinVar contains an entry for this variant (Variation ID: 809681). This variant has not been reported in the literature in individuals affected with FAT4-related conditions. This variant is present in population databases (rs750907829, ExAC 0.009%). This sequence change replaces lysine with asparagine at codon 2758 of the FAT4 protein (p.Lys2758Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.

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