ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13247T>A (p.Leu4416Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458187 SCV004177158 uncertain significance Van Maldergem syndrome 2 2023-08-07 criteria provided, single submitter clinical testing The FAT4 c.13247T>A ( p.Leu4416Gln) variant was identified at near heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. The FAT4 c.13247T>A ( p.Leu4416Gln) variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are conflicting as to the impact of this variant on the 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 this variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV005030034 SCV005657641 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-29 criteria provided, single submitter clinical testing

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