ClinVar Miner

Submissions for variant NM_012079.6(DGAT1):c.629_631del (p.Ser210del)

dbSNP: rs782577883
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584520 SCV001813018 pathogenic not provided 2021-12-09 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with reduced DGAT1 protein levels observed in cells transfected with DGAT1 gene with this variant (van Rijn et al., 2018); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31778854, 33144682, 33607125, 29604290)
Revvity Omics, Revvity RCV000660629 SCV002024066 likely pathogenic Congenital diarrhea 7 with exudative enteropathy 2021-09-07 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000660629 SCV002761505 likely pathogenic Congenital diarrhea 7 with exudative enteropathy 2020-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001584520 SCV003460779 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing This variant, c.629_631del, results in the deletion of 1 amino acid(s) of the DGAT1 protein (p.Ser210del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782577883, gnomAD 0.01%). This variant has been observed in individual(s) with protein-losing enteropathy (PMID: 29604290, 31778854, 33607125). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 548013). Studies have shown that this variant alters DGAT1 gene expression (PMID: 29604290). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000660629 SCV005681660 pathogenic Congenital diarrhea 7 with exudative enteropathy 2024-06-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660629 SCV000782751 uncertain significance Congenital diarrhea 7 with exudative enteropathy 2017-11-15 flagged submission clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252199 SCV002523741 uncertain significance See cases 2020-06-24 flagged submission clinical testing ACMG classification criteria: PM2, PM4, PP3
OMIM RCV000660629 SCV002757898 pathogenic Congenital diarrhea 7 with exudative enteropathy 2022-11-30 no assertion criteria provided literature only

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