Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380779 | SCV001578941 | pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala114Glyfs*5) in the MAK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAK are known to be pathogenic (PMID: 21148103, 21825139, 24938718, 29781741). This variant is present in population databases (rs527236082, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25324289). ClinVar contains an entry for this variant (Variation ID: 143121). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Dept Of Ophthalmology, |
RCV003888559 | SCV004706689 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132643 | SCV000172594 | probable-pathogenic | Retinitis pigmentosa | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |