Submissions for variant NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003071359	SCV003452757	uncertain significance	Pyruvate dehydrogenase E2 deficiency	2022-06-16	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs781848001, gnomAD 0.009%). This variant, c.960_971del, results in the deletion of 4 amino acid(s) of the DLAT protein (p.Thr322_Pro325del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DLAT-related conditions.
Ambry Genetics	RCV003071358	SCV003554656	uncertain significance	Inborn genetic diseases	2022-08-11	criteria provided, single submitter	clinical testing	The c.960_971del12 (p.T322_P325del) alteration is located in exon 6 (coding exon 6) of the DLAT gene. This alteration consists of an in-frame deletion of 12 nucleotides between nucleotide positions c.960 and c.971, resulting in the deletion of 4 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.