Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001375849 | SCV002235825 | pathogenic | Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2022-06-20 | 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: 1065328). This premature translational stop signal has been observed in individual(s) with congenital disorders of glycosylation (PMID: 33129689). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg47*) in the DPM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DPM2 are known to be pathogenic (PMID: 23109149). |
Fulgent Genetics, |
RCV001375849 | SCV002799868 | likely pathogenic | Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2022-05-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001375849 | SCV001572776 | pathogenic | Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2021-04-29 | no assertion criteria provided | literature only |