Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000757091 | SCV000885201 | pathogenic | not provided | 2017-11-10 | criteria provided, single submitter | clinical testing | The CHRNG c.274C>T; p.Arg92Ter variant is not published in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is not listed in the dbSNP variant database nor in general population-based databases (Exome Variant Server, Genome Aggregation Database). This variant introduces a premature termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as pathogenic. Pathogenic CHRNG variants are causative for autosomal recessive pterygium syndrome (MIM#253290) or Escobar syndrome (MIM#26500). |
| Fulgent Genetics, |
RCV002493380 | SCV002798950 | likely pathogenic | Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome | 2021-09-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000757091 | SCV004390555 | pathogenic | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg92*) in the CHRNG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNG are known to be pathogenic (PMID: 16826520). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHRNG-related conditions. ClinVar contains an entry for this variant (Variation ID: 618567). For these reasons, this variant has been classified as Pathogenic. |