Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000000246 | SCV000800636 | uncertain significance | Aspartylglucosaminuria | 2017-12-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000000246 | SCV002270748 | likely pathogenic | Aspartylglucosaminuria | 2021-07-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 222). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this variant affects AGA protein function (PMID: 11309371). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change replaces glycine with aspartic acid at codon 60 of the AGA protein (p.Gly60Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with aspartylglucosaminuria (PMID: 1722323). |
| Baylor Genetics | RCV000000246 | SCV004214342 | likely pathogenic | Aspartylglucosaminuria | 2022-05-15 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000000246 | SCV000020390 | pathogenic | Aspartylglucosaminuria | 1991-12-15 | no assertion criteria provided | literature only |