Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988127 | SCV001137720 | pathogenic | Congenital diarrhea 7 with exudative enteropathy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001858686 | SCV002244707 | pathogenic | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg280*) in the DGAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DGAT1 are known to be pathogenic (PMID: 29604290). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with DGAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 802449). For these reasons, this variant has been classified as Pathogenic. |
Department of Pediatrics, |
RCV000988127 | SCV004012981 | likely pathogenic | Congenital diarrhea 7 with exudative enteropathy | no assertion criteria provided | clinical testing |