ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9964G>A (p.Val3322Met)

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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 RCV004560375 SCV005047059 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-01-11 criteria provided, single submitter clinical testing The FAT4 c.9964G>A (p.Val3322Met) variant was identified at a near heterozygous allele fraction of 49%, a frequency which may be consistent with it being of germline origin. Computational predictors are conflicting as to the impact of this variant on FAT4 function. This variant is only observed on 30/1,614,194 alleles in the general population (gnomAD v4.0.0), indicating it is not a common variant. 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.9964G>A (p.Val3322Met) variant is uncertain at this time.

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