ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)

dbSNP: rs782260343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994723 SCV001148458 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549880 SCV003601209 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.167G>C (p.R56P) alteration is located in exon 1 (coding exon 1) of the DLAT gene. This alteration results from a G to C substitution at nucleotide position 167, causing the arginine (R) at amino acid position 56 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003117669 SCV003795543 uncertain significance Pyruvate dehydrogenase E2 deficiency 2022-08-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 56 of the DLAT protein (p.Arg56Pro). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 806735). 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.

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