Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000704627 | SCV000833583 | uncertain significance | Costello syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | 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 HRAS function. ClinVar contains an entry for this variant (Variation ID: 580944). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 80 of the HRAS protein (p.Cys80Ser). |
Revvity Omics, |
RCV000704627 | SCV003811238 | uncertain significance | Costello syndrome | 2021-04-21 | criteria provided, single submitter | clinical testing |