Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000032779 | SCV001467967 | pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2020-12-18 | criteria provided, single submitter | clinical testing | Variant summary: DGKE c.610delA (p.Thr204GlnfsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2.7e-05 in 186148 control chromosomes (gnomAD). c.610delA has been reported in the literature in two homozygous siblings from a Turkish consanguineous family affected with membranoproliferative-like glomerularmicroangiopathy (Ozaltin_2013). These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function (Ozaltin_2013). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Fulgent Genetics, |
RCV000032779 | SCV002778278 | pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2022-02-26 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV005089331 | SCV005837544 | pathogenic | not provided | 2024-06-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr204Glnfs*6) in the DGKE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DGKE are known to be pathogenic (PMID: 23274426, 23542698). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with steroid-resistant nephrotic syndrome (PMID: 29127259). ClinVar contains an entry for this variant (Variation ID: 39579). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000032779 | SCV000056543 | pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2013-02-01 | no assertion criteria provided | literature only | |
| Yale Center for Mendelian Genomics, |
RCV001849287 | SCV002106647 | likely pathogenic | Nephrotic syndrome | 2017-11-10 | no assertion criteria provided | literature only |