Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488356 | SCV000575096 | likely pathogenic | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001040033 | SCV001203588 | pathogenic | Cataract 10 multiple types | 2023-08-31 | criteria provided, single submitter | clinical testing | This variant, c.272_274del, results in the deletion of 1 amino acid(s) of the CRYBA1 protein (p.Gly91del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with congenital cataracts (PMID: 14669215, 15016766, 17653060, 21866213, 28120589, 28450710). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 425127). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects CRYBA1 function (PMID: 15016766, 20300566). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000488356 | SCV003915056 | pathogenic | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect with reduced solubility, defective folding, and reduced expression (Reddy et al., 2004; Li et al., 2019); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15111599, 25148791, 17653060, 14669215, 27628848, 28450710, 15558493, 24384146, 18587492, 21866213, 21686330, 34419537, 29364738, 28120589, 15016766, 31488069, 33243271) |
Molecular Medicine, |
RCV001040033 | SCV004022105 | likely pathogenic | Cataract 10 multiple types | 2023-07-28 | criteria provided, single submitter | research | |
OMIM | RCV001040033 | SCV000038746 | pathogenic | Cataract 10 multiple types | 2004-05-01 | no assertion criteria provided | literature only |