Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003883964 | SCV004701072 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | RRAS2: PP3 |
Prevention |
RCV003900975 | SCV004709108 | uncertain significance | RRAS2-related disorder | 2023-12-15 | criteria provided, single submitter | clinical testing | The RRAS2 c.439C>T variant is predicted to result in the amino acid substitution p.Arg147Trp. This variant has been reported in the homozygous state in an individual from a cohort of mucopolysaccharidoses patients; however, a second potentially causative variant was also reported in the patient (Family L, Gul et al. 2023. PubMed ID: 37091798). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Molecular Biology Laboratory, |
RCV003155904 | SCV003844061 | likely pathogenic | Noonan syndrome 12 | no assertion criteria provided | research |