Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000779570 | SCV000916248 | uncertain significance | Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2018-01-31 | criteria provided, single submitter | clinical testing | The c.37delC (p.Leu13SerfsTer6) variant results in a frameshift, and is predicted to result in premature termination of the protein. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for congenital disorders of glycosylation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| Labcorp Genetics |
RCV000779570 | SCV004686593 | pathogenic | Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2023-09-27 | 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: 632533). This variant has not been reported in the literature in individuals affected with DPM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu13Serfs*6) 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). |