ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.10481A>G (p.Gln3494Arg)

gnomAD frequency: 0.00001  dbSNP: rs766881276
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089942 SCV001244987 uncertain significance Nephrotic syndrome 2018-08-04 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_005245.3(FAT1):c.10481A>G, has been identified in exon 18 of 27 of the FAT1 gene. The variant is predicted to result in a minor amino acid change from glutamine to arginine at position 3494 of the protein (NP_005236.2(FAT1):p.(Gln3494Arg)). The glutamine at this position has low conservation (100 vertebrates, UCSC), and is located within the cadherin repeat domain. In silico predictions of pathogenicity for this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD database at a frequency of 0.0008% (0 homozygotes). This variant has not been previously reported in clinical cases. Analysis of parental samples indicated this variant was maternally inherited. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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.