ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.12913G>A (p.Ala4305Thr)

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
Invitae RCV002852846 SCV003228169 uncertain significance not provided 2023-11-27 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 4305 of the FAT2 protein (p.Ala4305Thr). This variant is present in population databases (rs145577993, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with FAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2022917). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
CeGaT Center for Human Genetics Tuebingen RCV002852846 SCV004157432 benign not provided 2022-06-01 criteria provided, single submitter clinical testing FAT2: BS1, BS2
Ambry Genetics RCV004064986 SCV004869943 uncertain significance not specified 2021-09-27 criteria provided, single submitter clinical testing The c.12913G>A (p.A4305T) alteration is located in exon 23 (coding exon 23) of the FAT2 gene. This alteration results from a G to A substitution at nucleotide position 12913, causing the alanine (A) at amino acid position 4305 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.