Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478887 | SCV000572331 | pathogenic | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001376561 | SCV001222508 | pathogenic | Zellweger spectrum disorders | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu974Phefs*15) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 21031596, 26387595, 31831025). This variant is present in population databases (rs762324548, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371696). For these reasons, this variant has been classified as Pathogenic. |
Preventiongenetics, |
RCV003418086 | SCV004113961 | likely pathogenic | PEX1-related condition | 2023-07-18 | criteria provided, single submitter | clinical testing | The PEX1 c.2922delA variant is predicted to result in a frameshift and premature protein termination (p.Leu974Phefs*15). To our knowledge, this variant has not been previously reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-92123804-GT-G). Frameshift variants in PEX1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |
Counsyl | RCV000411605 | SCV000487468 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2015-12-22 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000409154 | SCV000487469 | likely pathogenic | Heimler syndrome 1 | 2015-12-22 | no assertion criteria provided | clinical testing |