Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169249 | SCV000220531 | likely pathogenic | Primary hyperoxaluria, type I | 2014-07-19 | criteria provided, single submitter | literature only | |
Invitae | RCV000812967 | SCV000953297 | pathogenic | not provided | 2018-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan with arginine at codon 108 of the AGXT protein (p.Trp108Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs180177197, ExAC 0.002%). This variant has been observed in several individuals affected with AGXT-related conditions (PMID: 9604803, 15961946, 27935012, Invitae). ClinVar contains an entry for this variant (Variation ID: 188891). This variant has been reported to affect AGXT protein function (PMID: 24718375, 22018727, 18448374). For these reasons, this variant has been classified as Pathogenic. |
Clinical Biochemistry Laboratory, |
RCV000169249 | SCV000239625 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | in vitro |