Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tartaglia Lab, |
RCV000852397 | SCV000902251 | pathogenic | Noonan syndrome | 2019-04-01 | criteria provided, single submitter | research | this is a pathogenic variant associated with Noonan Syndrome |
Prevention |
RCV003411705 | SCV004115267 | uncertain significance | RRAS2-related condition | 2023-02-20 | criteria provided, single submitter | clinical testing | The RRAS2 c.208G>A variant is predicted to result in the amino acid substitution p.Ala70Thr. This variant was reported to segregate with disease in a three generation family with Noonan syndrome (Capri et al. 2019. PubMed ID: 31130282). Functional studies demonstrate this variant results in increased p-MEK/ERK levels, consistent with a gain-of-function mechanism, resulting in hyperactivation of the RAS pathway (Capri et al. 2019. PubMed ID: 31130282). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-14316397-C-T). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
OMIM | RCV000853183 | SCV000995987 | pathogenic | Noonan syndrome 12 | 2019-10-15 | no assertion criteria provided | literature only |