Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469881 | SCV000550345 | uncertain significance | Costello syndrome | 2023-03-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 409948). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This variant is present in population databases (rs730880462, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 106 of the HRAS protein (p.Ser106Leu). 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. 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. |