Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469107 | SCV000541754 | uncertain significance | Noonan syndrome 8 | 2023-04-06 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 112 of the RIT1 protein (p.Arg112Cys). This variant is present in population databases (rs375724784, gnomAD 0.02%). 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: 404258). This variant has not been reported in the literature in individuals affected with RIT1-related conditions. |
Fulgent Genetics, |
RCV000469107 | SCV002775472 | uncertain significance | Noonan syndrome 8 | 2021-08-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000469107 | SCV003835060 | uncertain significance | Noonan syndrome 8 | 2021-05-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298464 | SCV003997175 | uncertain significance | Cardiovascular phenotype | 2023-05-18 | criteria provided, single submitter | clinical testing | The p.R112C variant (also known as c.334C>T), located in coding exon 4 of the RIT1 gene, results from a C to T substitution at nucleotide position 334. The arginine at codon 112 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV000469107 | SCV004050459 | uncertain significance | Noonan syndrome 8 | 2023-04-11 | criteria provided, single submitter | clinical testing |