ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val)

gnomAD frequency: 0.00001  dbSNP: rs368138514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961819 SCV002134730 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 942 of the FAT4 protein (p.Ile942Val). This variant is present in population databases (rs368138514, gnomAD 0.007%). 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: 1365452). 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 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.
CeGaT Center for Human Genetics Tuebingen RCV001961819 SCV004148842 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing FAT4: PM2, BP4
Breakthrough Genomics, Breakthrough Genomics RCV001961819 SCV005190264 uncertain significance not provided criteria provided, single submitter not provided
3billion RCV004728872 SCV005328840 likely benign Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
PreventionGenetics, part of Exact Sciences RCV003941184 SCV004756158 uncertain significance FAT4-related disorder 2023-12-07 no assertion criteria provided clinical testing The FAT4 c.2824A>G variant is predicted to result in the amino acid substitution p.Ile942Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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