Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000610376 | SCV000714711 | benign | not specified | 2018-02-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV000792762 | SCV000932079 | likely benign | Noonan syndrome 9 | 2025-01-19 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000792762 | SCV002049063 | uncertain significance | Noonan syndrome 9 | 2021-07-27 | criteria provided, single submitter | clinical testing | The SOS2 c.2600A>G; p.Asn867Ser variant (rs561495878) has only been described in a brief abstract in one individual affected with Noonan syndrome, but clinical information was limited (Yang 2018). It is reported in ClinVar (Variation ID: 506639) and is observed in the general population at an overall frequency of 0.017% (48/282426 alleles) in the Genome Aggregation Database. The asparagine at codon 867 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.182). Due to limited information, the clinical significance of the p.Asn867Ser variant is uncertain at this time. REFERENCES ESPE Abstracts (2018) 89 P-P3-235: https://abstracts.eurospe.org/hrp/0089/hrp0089p3-p235 |
| Ambry Genetics | RCV002431764 | SCV002743335 | likely benign | Cardiovascular phenotype | 2021-11-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000610376 | SCV005726272 | likely benign | not specified | 2024-11-15 | criteria provided, single submitter | clinical testing |