ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9203A>G (p.Asn3068Ser)

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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 RCV004560384 SCV005047080 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-01-19 criteria provided, single submitter clinical testing The FAT4 c.9203A>G (p.Asn3068Ser) variant was identified at a near heterozygous allele fraction of 41%, a frequency which may be consistent with it being of germline origin. Computational predictors suggest that this variant does not impact FAT4 function. This variant is only observed on 26/1,613,698 alleles in the general population (gnomAD v4.0.0), indicating it is not a common variant. This variant, to our knowledge, has not been reported in the medical literature. Due to conflicting information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of the FAT4 c.9203A>G (p.Asn3068Ser) variant is uncertain at this time.

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