Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Medical Genetics |
RCV000852373 | SCV000929969 | pathogenic | Brachydactyly; Polydactyly, postaxial, type A1; Syndactyly; Retinal degeneration | 2019-02-01 | criteria provided, single submitter | research | |
| Labcorp Genetics |
RCV003556074 | SCV004293299 | pathogenic | not provided | 2023-04-09 | criteria provided, single submitter | clinical testing | This missense change has been observed in individuals with Leber congenital amaurosis, retinitis pigmentosa and/or retinal degeneration (PMID: 15024725, 24265693, 31549751). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg400 amino acid residue in TULP1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19339744, 23847139; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 30261). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 400 of the TULP1 protein (p.Arg400Trp). |
| Institute of Human Genetics, |
RCV004814918 | SCV005070618 | likely pathogenic | Retinal dystrophy | 2017-01-01 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000023188 | SCV000044479 | pathogenic | Leber congenital amaurosis 15 | 2004-04-01 | no assertion criteria provided | literature only | |
| Laboratory of Genetics in Ophthalmology, |
RCV000023188 | SCV001432536 | pathogenic | Leber congenital amaurosis 15 | no assertion criteria provided | research |