ClinVar Miner

Submissions for variant NM_005390.5(PDHA2):c.679A>G (p.Met227Val)

gnomAD frequency: 0.00006  dbSNP: rs200969445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Molecular Biology and Genetics, Bogazici University RCV000523769 SCV000579433 pathogenic Oligosynaptic infertility no assertion criteria provided research
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes RCV001797092 SCV002039182 pathogenic Azoospermia 2021-12-20 no assertion criteria provided case-control
OMIM RCV002221240 SCV002498699 pathogenic Spermatogenic failure 70 2022-04-06 no assertion criteria provided literature only

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