ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8921A>G (p.Asn2974Ser)

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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 RCV005052229 SCV005685291 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-06-20 criteria provided, single submitter clinical testing A FAT4 c.8921A>G (p.Asn2974Ser) variant was identified at a near heterozygous allele fraction, which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature and is observed on 16/1,613,892 alleles in the general population (gnomAD v4.1.0). 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 the FAT4 c.8921A>G (p.Asn2974Ser) variant is uncertain at this time.

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