Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513931 | SCV003466204 | uncertain significance | not provided | 2023-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 97 of the ASB10 protein (p.Asp97Glu). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 99977). This missense change has been observed in individual(s) with glaucoma (PMID: 22156576). This variant is present in population databases (rs151344619, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. |
Casey Eye Institute Glaucoma Genetics Lab | RCV000086427 | SCV000118576 | not provided | Glaucoma 1, open angle, F | no assertion provided | not provided |