Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001299942 | SCV001489058 | uncertain significance | not provided | 2022-02-04 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1003395). This variant has not been reported in the literature in individuals affected with PCARE-related conditions. This variant is present in population databases (rs757428273, gnomAD 0.03%). This sequence change affects codon 465 of the PCARE mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PCARE protein. |
Dept Of Ophthalmology, |
RCV003887996 | SCV004705349 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |