ClinVar Miner

Submissions for variant NM_012079.6(DGAT1):c.1007TCT[2] (p.Phe338del)

dbSNP: rs782575471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486981 SCV000572508 likely pathogenic not provided 2016-12-14 criteria provided, single submitter clinical testing The c.1013_1015delTCT variant in the DGAT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1013_1015delTCT variant causes an inframe deletion of a Phenylalanine residue at codon 338, denoted p.Phe338del. The c.1013_1015delTCT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This deletion occurs at a position that is conserved. The c.1013_1015delTCT variant is a strong candidate for a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000486981 SCV002124297 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing This variant, c.1013_1015del, results in the deletion of 1 amino acid(s) of the DGAT1 protein (p.Phe338del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782575471, gnomAD 0.007%). This variant has been observed in individual(s) with congenital diarrhea (PMID: 28937539). ClinVar contains an entry for this variant (Variation ID: 422909). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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