Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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. |