Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000012650 | SCV001576058 | pathogenic | Tyrosinemia type I | 2023-07-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that this missense change is associated with altered splicing resulting in multiple RNA products (PMID: 11476670). 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. ClinVar contains an entry for this variant (Variation ID: 11875). This missense change has been observed in individual(s) with tyrosinemia, type 1 (PMID: 11196105). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 279 of the FAH protein (p.Gln279Arg). |
Baylor Genetics | RCV000012650 | SCV004195886 | likely pathogenic | Tyrosinemia type I | 2023-08-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012650 | SCV000032885 | pathogenic | Tyrosinemia type I | 2000-12-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000012650 | SCV002089838 | likely pathogenic | Tyrosinemia type I | 2020-05-22 | no assertion criteria provided | clinical testing |