Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kids Research, |
RCV001089498 | SCV001244743 | likely pathogenic | Pontocerebellar hypoplasia type 6 | 2024-10-27 | criteria provided, single submitter | research | PM3_Strong, PM2 |
Labcorp Genetics |
RCV001862656 | SCV002240520 | pathogenic | not provided | 2024-02-25 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 522 of the RARS2 protein (p.Val522Ile). This variant is present in population databases (rs201386427, gnomAD 0.03%). This missense change has been observed in individual(s) with pontocerebellar hypoplasia (PMID: 32313153, 33972171, 34247374). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 869402). 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 RARS2 protein function. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001089498 | SCV004206145 | likely pathogenic | Pontocerebellar hypoplasia type 6 | 2024-03-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001089498 | SCV005674039 | likely pathogenic | Pontocerebellar hypoplasia type 6 | 2024-02-06 | criteria provided, single submitter | clinical testing |