Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411360 | SCV000487296 | likely pathogenic | Rhizomelic chondrodysplasia punctata type 1 | 2016-11-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003475974 | SCV004203919 | pathogenic | Peroxisome biogenesis disorder 9B | 2022-04-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003475974 | SCV004294418 | pathogenic | Peroxisome biogenesis disorder 9B | 2023-05-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371661). This variant is also known as 339C>T. This premature translational stop signal has been observed in individual(s) with Rhizomelic Chondrodysplasia Punctata (PMID: 12325024). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln112*) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). |