Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513317 | SCV000609289 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | RP1L1: PM2, BP4 |
Eurofins Ntd Llc |
RCV000513317 | SCV000704171 | uncertain significance | not provided | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765984 | SCV000897415 | uncertain significance | Occult macular dystrophy | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000513317 | SCV001490531 | uncertain significance | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 150 of the RP1L1 protein (p.Thr150Ile). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RP1L1-related conditions. ClinVar contains an entry for this variant (Variation ID: 444739). 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 not expected to disrupt RP1L1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000513317 | SCV001782568 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | Identified in individuals with autosomal dominant occult macular dystrophy referred for genetic testing at GeneDx and in published literature; however, these individuals also harbored the R45W variant on the same allele (in cis) (Davidson et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32445700, 23281133) |