Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
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, |
RCV000171394 | SCV003819888 | uncertain significance | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003888608 | SCV004707280 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Faculty of Health Sciences, |
RCV001257784 | SCV001434647 | pathogenic | Autosomal recessive retinitis pigmentosa | 2015-09-10 | no assertion criteria provided | literature only |