Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090333 | SCV001245822 | pathogenic | not provided | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090333 | SCV002230958 | uncertain significance | not provided | 2021-10-11 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 253017). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 27486781). This variant is present in population databases (rs772592456, ExAC 0.002%). This sequence change replaces tryptophan with cysteine at codon 310 of the RCBTB1 protein (p.Trp310Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. |
Center for Medical Genetics Ghent, |
RCV000239602 | SCV000292418 | likely pathogenic | Retinitis pigmentosa | no assertion criteria provided | research | ||
OMIM | RCV000258140 | SCV000328263 | pathogenic | RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | 2016-11-01 | no assertion criteria provided | literature only |