ClinVar Miner

Submissions for variant NM_012079.6(DGAT1):c.868C>T (p.Gln290Ter)

dbSNP: rs782349298
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982836 SCV002219212 pathogenic not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln290*) 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 not present in population databases (gnomAD no frequency). 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: 1445272). For these reasons, this variant has been classified as Pathogenic.

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