ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1081A>G (p.Met361Val)

gnomAD frequency: 0.00003  dbSNP: rs121964993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000012752 SCV004193954 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2024-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000012752 SCV004295525 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2024-08-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 361 of the DLD protein (p.Met361Val). This variant is present in population databases (rs121964993, gnomAD 0.002%). This missense change has been observed in individual(s) with dihydrolipoamide dehydrogenase deficiency (PMID: 11687750). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 11972). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DLD protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000012752 SCV005416793 likely pathogenic Pyruvate dehydrogenase E3 deficiency criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM3+PP4
Fulgent Genetics, Fulgent Genetics RCV000012752 SCV005673717 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV000012752 SCV000032987 pathogenic Pyruvate dehydrogenase E3 deficiency 2001-11-01 no assertion criteria provided literature only

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