ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.943G>T (p.Val315Phe) (rs72558470)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590461 SCV000697263 likely pathogenic Ornithine carbamoyltransferase deficiency 2016-09-20 criteria provided, single submitter clinical testing Variant summary: The OTC c.943G>T (p.Val315Phe) variant involves the alteration of a conserved nucleotide. Val315 is located in the Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 87705 control chromosomes. p.Val315Gly and p.Val315Asp have been classified as pathogenic in ClinVar and HGMD, suggesting Val315 is critical for the function of OTC protein. In addition, one clinical diagnostic laboratory/reputable database has classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic until additional data becomes available (occurrences in OTCD patients and functional studies).
GenMed Metabolism Lab RCV000083614 SCV000115700 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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