ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.2102A>G (p.Asn701Ser)

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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 RCV004560425 SCV005047162 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-19 criteria provided, single submitter clinical testing A FAT4 c.2102A>G (p.Asn701Ser) variant was identified at an allelic fraction consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. The FAT4 c.2102A>G (p.Asn701Ser) variant is absent from the general population (gnomAD v.4.0.0), indicating it is not a common variant. Computational predictors suggest that this 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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