ClinVar Miner

Submissions for variant NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter)

gnomAD frequency: 0.00001  dbSNP: rs1554847435
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Total submissions: 3
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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, ShengJing Hospital of China Medical University RCV000988127 SCV004012981 likely pathogenic Congenital diarrhea 7 with exudative enteropathy no assertion criteria provided clinical testing

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