Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000087034 | SCV002034828 | likely pathogenic | Congenital disorder of glycosylation type 1E | 2021-11-01 | criteria provided, single submitter | clinical testing | The DPM1 c.847T>C (p.Ser283Pro) variant, also known as c.742T>C (p.Ser248Pro), is a missense variant that has been reported in at least two studies and is found in four individuals with congenital disorder of glycosylation, including in three in a homozygous state and one in a compound heterozygous state (Garcia-Silva et al. 2004; Medrano et al. 2019). This variant is not found in the Genome Aggregation Database, version 2.1.1 and version 3.1.1, and is in a region of good sequencing coverage, so the variant is presumed to be rare. Analysis of the p.Ser283Pro variant in knockdown zebrafish found that the variant partially reduced DPM1 function, which authors suggest is consistent with a milder phenotype (Ardiccioni et al. 2015). Based on the evidence, the p.Ser283Pro variant is classified as likely pathogenic for congenital disorder of glycosylation. |
| OMIM | RCV000087034 | SCV000119848 | pathogenic | Congenital disorder of glycosylation type 1E | 2004-01-01 | no assertion criteria provided | literature only |