ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11039C>T (p.Thr3680Met)

gnomAD frequency: 0.00003  dbSNP: rs367877267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001985210 SCV002220537 uncertain significance not provided 2021-05-03 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. This variant has not been reported in the literature in individuals with FAT4-related conditions. This variant is present in population databases (rs367877267, ExAC 0.01%). This sequence change replaces threonine with methionine at codon 3678 of the FAT4 protein (p.Thr3678Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine.
3billion RCV004728980 SCV005328814 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.

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