Submissions for variant NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003079007	SCV003460706	uncertain significance	Pyruvate dehydrogenase E2 deficiency	2022-04-30	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 202 of the DLAT protein (p.Ser202Leu). This variant is present in population databases (rs781951438, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DLAT protein function. 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.
Ambry Genetics	RCV003250736	SCV003951555	uncertain significance	Inborn genetic diseases	2023-04-07	criteria provided, single submitter	clinical testing	The c.605C>T (p.S202L) alteration is located in exon 4 (coding exon 4) of the DLAT gene. This alteration results from a C to T substitution at nucleotide position 605, causing the serine (S) at amino acid position 202 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.