Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074832 | SCV001240432 | pathogenic | Retinal dystrophy | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001389647 | SCV001591082 | pathogenic | not provided | 2022-07-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 635158). This variant is also known as Ile312del. This variant has been observed in individual(s) with achromatopsia (PMID: 11536077, 24676353, 25616768, 28159970, 30682209). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs777878533, gnomAD 0.009%). This variant, c.940_942del, results in the deletion of 1 amino acid(s) of the CNGA3 protein (p.Ile314del), but otherwise preserves the integrity of the reading frame. |
Gene |
RCV001389647 | SCV002577116 | pathogenic | not provided | 2022-03-29 | criteria provided, single submitter | clinical testing | In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29706639, 11536077, 28159970, 30682209, 24676353, 25616768, 31456290) |
Molecular Genetics Laboratory, |
RCV000786011 | SCV000924651 | likely pathogenic | Achromatopsia | 2017-12-13 | no assertion criteria provided | research | |
Sharon lab, |
RCV000786011 | SCV001161010 | pathogenic | Achromatopsia | 2019-06-23 | no assertion criteria provided | research |