ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5806G>A (p.Asp1936Asn)

gnomAD frequency: 0.00005  dbSNP: rs1235801879
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926623 SCV002207088 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with FAT4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 1936 of the FAT4 protein (p.Asp1936Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.
Ambry Genetics RCV004044269 SCV004869792 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.5806G>A (p.D1936N) alteration is located in exon 4 (coding exon 4) of the FAT4 gene. This alteration results from a G to A substitution at nucleotide position 5806, causing the aspartic acid (D) at amino acid position 1936 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genomics Laboratory, Washington University in St. Louis RCV005051937 SCV005685405 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2024-06-03 criteria provided, single submitter clinical testing A FAT4 c.5806G>A (p.Asp1936Asn) variant was identified at a near heterozygous allelic fraction, a frequency which may be consistent with germline origin. To our knowledge, this variant has not been reported in the medical literature and is only observed on 10/1,609,746 alleles in the general population (gnomAD v.4.1.0), indicating it is not a common variant. This variant has been reported in the ClinVar database as a germline variant of uncertain significance by two submitters (ClinVar ID: 1425420). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.