Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227504 | SCV000291527 | uncertain significance | Legius syndrome | 2023-08-23 | 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 SPRED1 function. ClinVar contains an entry for this variant (Variation ID: 241993). This variant has not been reported in the literature in individuals affected with SPRED1-related conditions. This variant is present in population databases (rs779966392, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 332 of the SPRED1 protein (p.Arg332His). |