Submissions for variant NM_001931.5(DLAT):c.1130-6T>G

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003059255	SCV003334977	uncertain significance	Pyruvate dehydrogenase E2 deficiency	2022-04-01	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with DLAT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 7 of the DLAT gene. It does not directly change the encoded amino acid sequence of the DLAT protein.
GeneDx	RCV004765629	SCV005376286	uncertain significance	not provided	2023-10-17	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.