Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000086066 | SCV003439371 | pathogenic | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg420 amino acid residue in TULP1. Other variant(s) that disrupt this residue have been observed in individuals with TULP1-related conditions (PMID: 23499059, 23591405; Invitae), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects TULP1 function (PMID: 26427415, 26987071). 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: 7357). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 9462750). It has also been observed to segregate with disease in related individuals. This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 420 of the TULP1 protein (p.Arg420Pro). |
| OMIM | RCV000007782 | SCV000027983 | pathogenic | Retinitis pigmentosa 14 | 1998-02-01 | no assertion criteria provided | literature only | |
| Retina International | RCV000086066 | SCV000118210 | not provided | not provided | no assertion provided | not provided |