ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)

gnomAD frequency: 0.00019  dbSNP: rs752069515
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001037389 SCV001200800 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479241 SCV002781177 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031029 SCV004886216 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.235A>G (p.T79A) alteration is located in exon 3 (coding exon 3) of the IFT172 gene. This alteration results from a A to G substitution at nucleotide position 235, causing the threonine (T) at amino acid position 79 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004553568 SCV004751054 likely benign IFT172-related disorder 2020-03-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.