ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.113A>G (p.Tyr38Cys)

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
Ambry Genetics RCV004400250 SCV004885901 uncertain significance Inborn genetic diseases 2023-09-21 criteria provided, single submitter clinical testing The c.113A>G (p.Y38C) alteration is located in exon 3 (coding exon 3) of the IFT122 gene. This alteration results from a A to G substitution at nucleotide position 113, causing the tyrosine (Y) at amino acid position 38 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023511 SCV005659482 uncertain significance Cranioectodermal dysplasia 1 2024-02-07 criteria provided, single submitter clinical testing

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.