ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg)

gnomAD frequency: 0.00018  dbSNP: rs141095369
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
PreventionGenetics, part of Exact Sciences RCV000252237 SCV000306809 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001494269 SCV001698921 likely benign Treacher Collins syndrome 1 2023-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000983903 SCV001910617 benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004668875 SCV005168255 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.3493G>C (p.G1165R) alteration is located in exon 21 (coding exon 21) of the TCOF1 gene. This alteration results from a G to C substitution at nucleotide position 3493, causing the glycine (G) at amino acid position 1165 to be replaced by an arginine (R). 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.