Submissions for variant NM_001291303.3(FAT4):c.7196T>C (p.Ile2399Thr)

gnomAD frequency: 0.00023  dbSNP: rs140285782

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493492	SCV000582805	uncertain significance	not provided	2017-05-18	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the FAT4 gene. The I2399T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I2399T variant is observed in 4/11558 (0.04%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I2399T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000493492	SCV002324185	likely benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005027572	SCV005662389	uncertain significance	Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2	2024-03-06	criteria provided, single submitter	clinical testing