ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.14468G>A (p.Arg4823Lys)

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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 RCV004560380 SCV005047068 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-01-08 criteria provided, single submitter clinical testing The FAT4 c.14468G>A (p.Arg4823Lys) variant was identified at a near-heterozygous allelic fraction of 48%, a frequency consistent with it being of germline origin. To our knowledge, this variant has not been reported in the medical literature and is only observed on 4/780,896 alleles in the general population (gnomAD v.4.0.0), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on 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.

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