Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002250286 | SCV002518959 | pathogenic | Pontocerebellar hypoplasia type 6 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
DASA | RCV002250286 | SCV002588773 | pathogenic | Pontocerebellar hypoplasia type 6 | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.1390C>T;p.(Gln464*) variant creates a premature translational stop signal in the RARS2 gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (Clinvar ID: 1686119) - PS4_supporting. The variant is present at low allele frequencies population databases (rs753312969 – gnomAD 0.00003990%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic. |
Invitae | RCV003094037 | SCV003441225 | pathogenic | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs753312969, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1686119). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln464*) in the RARS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RARS2 are known to be pathogenic (PMID: 17847012, 22569581, 26083569). |
Baylor Genetics | RCV002250286 | SCV004206134 | likely pathogenic | Pontocerebellar hypoplasia type 6 | 2023-10-18 | criteria provided, single submitter | clinical testing |