Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531121 | SCV000638107 | pathogenic | Cataract 3 multiple types | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 119 of the CRYBB2 protein (p.Gly119Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital cataracts (PMID: 26694549; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 242473). 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. For these reasons, this variant has been classified as Pathogenic. |
Molecular Diagnostics Laboratory, |
RCV000531121 | SCV001477498 | likely pathogenic | Cataract 3 multiple types | 2020-11-23 | criteria provided, single submitter | clinical testing |