ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)

gnomAD frequency: 0.00001  dbSNP: rs1135402725
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000149582 SCV000680328 pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2017-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091950 SCV001248252 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing PDHX: PM3:Strong, PVS1:Strong, PM2, PP4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091950 SCV001447178 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000149582 SCV002549866 pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2022-07-13 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PVS1_STR, PM3_STR, PM2_SUP, PP4
MGZ Medical Genetics Center RCV000149582 SCV002581422 likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2022-02-11 criteria provided, single submitter clinical testing
Invitae RCV001091950 SCV003514862 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162202). This variant is also known as R466X. This premature translational stop signal has been observed in individual(s) with clinical features of pyruvate dehydrogenase complex deficiency (PMID: 16904023, 25087164). It is commonly reported in individuals of Roma ancestry (PMID: 25087164). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg446*) in the PDHX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acid(s) of the PDHX protein.
OMIM RCV000149582 SCV000196558 pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2014-09-01 no assertion criteria provided literature only

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