ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.572C>T (p.Ala191Val)

gnomAD frequency: 0.00016  dbSNP: rs200500508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003313055 SCV000251331 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000660430 SCV000782520 uncertain significance Pyruvate dehydrogenase E2 deficiency 2016-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660430 SCV002116194 uncertain significance Pyruvate dehydrogenase E2 deficiency 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 191 of the DLAT protein (p.Ala191Val). This variant is present in population databases (rs200500508, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 214292). 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 RCV004020393 SCV004855941 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.572C>T (p.A191V) 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 572, causing the alanine (A) at amino acid position 191 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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