ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13837G>A (p.Ala4613Thr)

gnomAD frequency: 0.00004  dbSNP: rs151087097
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002030282 SCV002273381 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4611 of the FAT4 protein (p.Ala4611Thr). This variant is present in population databases (rs151087097, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with FAT4-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FAT4 protein function. 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.
Ambry Genetics RCV003355738 SCV004065105 uncertain significance Inborn genetic diseases 2023-06-30 criteria provided, single submitter clinical testing The c.13831G>A (p.A4611T) alteration is located in exon 17 (coding exon 17) of the FAT4 gene. This alteration results from a G to A substitution at nucleotide position 13831, causing the alanine (A) at amino acid position 4611 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002030282 SCV005378523 uncertain significance not provided 2023-11-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005025587 SCV005662908 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-16 criteria provided, single submitter clinical testing

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.