ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln)

gnomAD frequency: 0.00002  dbSNP: rs760398912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207371 SCV000259111 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517389 SCV003021104 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2654 of the FAT4 protein (p.Lys2654Gln). This variant is present in population databases (rs760398912, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FAT4-related conditions. ClinVar contains an entry for this variant (Variation ID: 221915). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FAT4 protein function with a negative predictive value of 80%. 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.
Breakthrough Genomics, Breakthrough Genomics RCV002517389 SCV005256159 likely benign not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005025338 SCV005659957 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-07 criteria provided, single submitter clinical testing

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