Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001350121 | SCV001544499 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 952 of the CPLANE1 protein (p.Asn952Ser). This variant is present in population databases (rs554483416, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CPLANE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 569892). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CPLANE1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Gene |
RCV001350121 | SCV001788606 | uncertain significance | not provided | 2021-06-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000690636 | SCV002797010 | uncertain significance | Orofaciodigital syndrome type 6; Joubert syndrome 17 | 2022-05-10 | criteria provided, single submitter | clinical testing |