ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)

gnomAD frequency: 0.00002  dbSNP: rs770045008
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171394 SCV000221591 likely pathogenic not provided criteria provided, single submitter research
Invitae RCV000171394 SCV002242681 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 419 of the TULP1 protein (p.Arg419Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs770045008, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of inherited retinal dystrophy (PMID: 26355662, 29625443, 31630094; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 191207). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TULP1 protein function. This variant disrupts the p.Arg419 amino acid residue in TULP1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25342620, 26047050, 29843741; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000171394 SCV003819888 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888608 SCV004707280 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Faculty of Health Sciences, Beirut Arab University RCV001257784 SCV001434647 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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.