Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002228036 | SCV000766137 | pathogenic | Aculeiform cataract | 2017-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 59 of the CRYGD protein (p.Arg59His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. In summary, this is a rare missense change that has been reported to segregate with disease in multiple families. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has been reported to segregate with the aculeiform-cataract phenotype in several families (PMID: 10521291). This variant is also known as c.411G>A, p.R58H in the literature. ClinVar contains an entry for this variant (Variation ID: 16938). This variant is not present in population databases (ExAC no frequency). |
OMIM | RCV000018446 | SCV000038728 | pathogenic | Cataract 4 multiple types | 2007-09-01 | no assertion criteria provided | literature only | |
Prevention |
RCV003894812 | SCV004709578 | uncertain significance | CRYGD-related disorder | 2024-01-08 | no assertion criteria provided | clinical testing | The CRYGD c.176G>A variant is predicted to result in the amino acid substitution p.Arg59His. In the literature, this variant is also referred to as c.411G>A (p.Arg58His). This variant has been reported in an individuals with aculeiform-cataract (Heon et al 1999. PubMed ID: 10521291). This variant has not been reported in a large population database, indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |