ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met)

gnomAD frequency: 0.00033  dbSNP: rs141773516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255467 SCV000321629 uncertain significance not provided 2020-12-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26633542)
Invitae RCV000255467 SCV002366972 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458324 SCV004177089 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2023-10-18 criteria provided, single submitter clinical testing The FAT4 c.5597C>T (p.Thr1866Met) variant was identified at a near heterozygous allelic fraction of 45%, a frequency which may be consistent with it being of germline origin. This variant has been reported as a somatic variant in a single case of colorectal cancer (Yu Jun et al., PMID: 24951259). This variant has been reported in the ClinVar database as a variant of uncertain significance by one submitter and likely benign variant by another submitter (ClinVar ID: 265140). 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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