Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001751538 | SCV001987732 | uncertain significance | not provided | 2019-02-08 | criteria provided, single submitter | clinical testing | Observed in a patient with an incomplete form of congenital stationary blindness, and in the hemizygous state in a male with early onset high myopia (Zeitz et al., 2015; Sun et al., 2015); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26747767, 25307992, 33668843) |
Invitae | RCV001751538 | SCV002296905 | likely pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 82 of the CACNA1F protein (p.Arg82Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with CACNA1F-related conditions (PMID: 25307992, 26747767, 28002560, 30825406). ClinVar contains an entry for this variant (Variation ID: 988786). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
MGZ Medical Genetics Center | RCV002290679 | SCV002579710 | uncertain significance | Ocular albinism, type II | 2021-12-21 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics in Ophthalmology, |
RCV001270455 | SCV001450743 | likely pathogenic | Congenital stationary night blindness 2A | no assertion criteria provided | research |