Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197761 | SCV000252174 | likely pathogenic | not provided | 2019-11-19 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31665838, 31618753) |
Fulgent Genetics, |
RCV000765895 | SCV000897315 | uncertain significance | Pontocerebellar hypoplasia type 6 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000197761 | SCV003269650 | pathogenic | not provided | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 560 of the RARS2 protein (p.Arg560His). This variant is present in population databases (rs756502974, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of RARS2-related conditions (PMID: 31618753, 31665838, 35068129; Invitae). 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: 215071). 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) performed at Invitae indicates that this missense variant is not expected to disrupt RARS2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000765895 | SCV003813858 | uncertain significance | Pontocerebellar hypoplasia type 6 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000765895 | SCV004206137 | likely pathogenic | Pontocerebellar hypoplasia type 6 | 2023-10-18 | criteria provided, single submitter | clinical testing |