ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.1028C>A (p.Thr343Lys)

dbSNP: rs72558491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000083323 SCV005201831 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22360542, 12556295, 8956038, 7627182, 33309754, 28324312)
GenMed Metabolism Lab RCV000083323 SCV000115409 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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