ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1100A>C (p.His367Pro)

dbSNP: rs1131691584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493915 SCV000582424 pathogenic not provided 2022-09-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000493915 SCV000610441 likely pathogenic not provided 2017-05-09 criteria provided, single submitter clinical testing

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