ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe)

gnomAD frequency: 0.00009  dbSNP: rs937871148
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517297 SCV000614298 likely benign not provided 2019-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527500 SCV003715600 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.4046C>T (p.S1349F) alteration is located in exon 24 (coding exon 24) of the NOTCH3 gene. This alteration results from a C to T substitution at nucleotide position 4046, causing the serine (S) at amino acid position 1349 to be replaced by a phenylalanine (F). 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.