ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4346G>A (p.Arg1449Gln)

gnomAD frequency: 0.00006  dbSNP: rs571438309
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 RCV001915900 SCV002178447 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331430 SCV002633158 uncertain significance Inborn genetic diseases 2018-02-08 criteria provided, single submitter clinical testing The p.R1449Q variant (also known as c.4346G>A), located in coding exon 1 of the RAI1 gene, results from a G to A substitution at nucleotide position 4346. The arginine at codon 1449 is replaced by glutamine, an amino acid with highly similar properties. This variant did not co-segregate with disease in one individual tested in our laboratory. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004743640 SCV005347584 uncertain significance RAI1-related disorder 2024-09-13 no assertion criteria provided clinical testing The RAI1 c.4346G>A variant is predicted to result in the amino acid substitution p.Arg1449Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.