Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001306970 | SCV001496361 | uncertain significance | Noonan syndrome 8 | 2023-03-09 | criteria provided, single submitter | clinical testing | 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. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt RIT1 function. ClinVar contains an entry for this variant (Variation ID: 1009476). This variant has not been reported in the literature in individuals affected with RIT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 123 of the RIT1 protein (p.Arg123His). |
Gene |
RCV001558902 | SCV001780939 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing |