Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654944 | SCV000776852 | uncertain significance | RASopathy | 2023-03-18 | 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 BRAF function. ClinVar contains an entry for this variant (Variation ID: 543981). This missense change has been observed in individual(s) with clinical features of BRAF-related conditions (Invitae). This variant is present in population databases (rs766748977, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 120 of the BRAF protein (p.Val120Ile). |