ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.470C>G (p.Thr157Ser)

gnomAD frequency: 0.00021  dbSNP: rs142232609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793434 SCV000932786 uncertain significance Pyruvate dehydrogenase E3 deficiency 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 157 of the DLD protein (p.Thr157Ser). This variant is present in population databases (rs142232609, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 640413). 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 DLD 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.
GeneDx RCV005231337 SCV005874639 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000793434 SCV001463989 uncertain significance Pyruvate dehydrogenase E3 deficiency 2020-04-16 no assertion criteria provided clinical testing

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