ClinVar Miner

Submissions for variant NM_012079.6(DGAT1):c.751+2T>C (rs148665132)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000128413 SCV000807603 pathogenic Diarrhea 7 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found in two affected individuals in our laboratory, including a homozygote and a compound hetrozygote. Both inidividuals had FTT, diarrhea, significant fat malabsorption. Heterozygotes are expected to be asymptomatic carriers.
Fulgent Genetics,Fulgent Genetics RCV000128413 SCV000893777 pathogenic Diarrhea 7 2018-10-31 criteria provided, single submitter clinical testing
Elsea Laboratory,Baylor College of Medicine RCV000128413 SCV001424296 pathogenic Diarrhea 7 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266236 SCV001444408 pathogenic Inborn genetic diseases 2018-02-02 criteria provided, single submitter clinical testing
Invitae RCV001382858 SCV001581807 pathogenic not provided 2020-04-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the DGAT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs148665132, ExAC 0.02%). This variant has been observed in individual(s) with congenital chronic diarrhea (PMID: 23114594, 26883093). It has also been observed to segregate with disease in related individuals. This variant is also known as g.13827T>C and g.145541756A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 139512). This variant has been reported to affect DGAT1 protein function (PMID: 23114594). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DGAT1 are known to be pathogenic (PMID: 29604290). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000128413 SCV000172090 pathogenic Diarrhea 7 2012-12-03 no assertion criteria provided literature only
GeneDx RCV001382858 SCV001804375 pathogenic not provided 2020-07-06 no assertion criteria provided clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Published functional studies demonstrate a damaging effect; specifically, cDNA analysis revealed exon 8 skipping leading to the deletion of 25 amino-acids from the MBOAT domain, and molecular analysis of the mutant allele indicated a total loss of function, with no detectable DGAT1 protein or activity produced (Haas et al., 2012); This variant is associated with the following publications: (PMID: 31589614, 31618753, 30095213, 23114594, 26883093)

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