ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1440A>G (p.Ile480Met)

gnomAD frequency: 0.00002  dbSNP: rs772512477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665255 SCV000789346 uncertain significance Pyruvate dehydrogenase E3 deficiency 2017-02-07 criteria provided, single submitter clinical testing
Mendelics RCV000665255 SCV002519490 pathogenic Pyruvate dehydrogenase E3 deficiency 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665255 SCV003440154 uncertain significance Pyruvate dehydrogenase E3 deficiency 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 480 of the DLD protein (p.Ile480Met). This variant is present in population databases (rs772512477, gnomAD 0.006%). This missense change has been observed in individual(s) with dihydrolipoamide dehydroganse deficiency (PMID: 20652410). ClinVar contains an entry for this variant (Variation ID: 550498). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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