ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.1856G>A (p.Arg619His)

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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 RCV005052274 SCV005685396 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-11-25 criteria provided, single submitter clinical testing A FAT4 c.1856G>A (p.Arg619His) variant was identified at a near heterozygous allelic fraction of 48.9%, a frequency that may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. It is only observed on 12/1,614,084 alleles in the general population (gnomAD v.4.1.0), indicating it is not a common variant. Computational predictors suggest that the 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 this variant is uncertain at this time.

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