Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255604 | SCV000322290 | pathogenic | not provided | 2021-02-08 | criteria provided, single submitter | clinical testing | Nonsense 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); This variant is associated with the following publications: (PMID: 10083738, 21465523, 11781871, 12325024, 25525159, 26587300) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000008225 | SCV000919980 | pathogenic | Rhizomelic chondrodysplasia punctata type 1 | 2018-01-18 | criteria provided, single submitter | clinical testing | Variant summary: The PEX7 c.694C>T (p.Arg232X) variant results in a premature termination codon, predicted to cause a truncated or absent PEX7 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position, c.875T>A (p.Leu292X) has been classified as pathogenic by our laboratory. This variant was found in 1/246228 control chromosomes (gnomAD) at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic PEX7 variant (0.0018708). Multiple publications have cited the variant in affected compound heterozygote and homozygote RCDP1 patients. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV001064035 | SCV001228908 | pathogenic | Peroxisome biogenesis disorder 9B | 2023-08-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg232*) 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). This variant is present in population databases (rs121909153, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with rhizomelic chondrodysplasia punctata (PMID: 10083738, 26587300). ClinVar contains an entry for this variant (Variation ID: 7783). |
Centre for Mendelian Genomics, |
RCV001064035 | SCV001369103 | pathogenic | Peroxisome biogenesis disorder 9B | 2019-06-22 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5. |
Baylor Genetics | RCV001064035 | SCV004201632 | pathogenic | Peroxisome biogenesis disorder 9B | 2023-10-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000008225 | SCV000028432 | pathogenic | Rhizomelic chondrodysplasia punctata type 1 | 1999-01-01 | no assertion criteria provided | literature only | |
Counsyl | RCV000008225 | SCV000485677 | likely pathogenic | Rhizomelic chondrodysplasia punctata type 1 | 2016-01-27 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001826452 | SCV002077251 | pathogenic | Rhizomelic chondrodysplasia punctata | 2020-08-07 | no assertion criteria provided | clinical testing |