ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.2485C>G (p.Leu829Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052240 SCV005685317 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-07-15 criteria provided, single submitter clinical testing A FAT4 c.2485C>G (p.Leu829Val) variant was identified at a near heterozygous allelic fraction of 49.3%, a frequency which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v4.1.0), indicating that it is not a common variant. Another variant in the same codon, c.2486T>G (p.Leu829Arg), has been reported in an individual affected with Van Maldergem syndrome 2 (Meng L et al., PMID: 28973083). Computational predictors suggest that this variant does not impact FAT4 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of the FAT4 c.2485C>G (p.Leu829Val) variant is uncertain at this time.

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