Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV004700460 | SCV005201640 | likely pathogenic | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect: Erk activation, active Ras-GTP levels, and mild cell proliferation (PMID: 22302539); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22302539) |
Clin |
RCV000144422 | SCV000189477 | not provided | Noonan syndrome 1 | no assertion provided | not provided |