ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.912G>T (p.Leu304Phe) (rs72558465)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011755 SCV001208498 likely pathogenic Ornithine carbamoyltransferase deficiency 2020-01-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 304 of the OTC protein (p.Leu304Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with OTC deficiency (PMID: 1480464, 7474892, 9452049). ClinVar contains an entry for this variant (Variation ID: 11008). This variant has been reported to affect OTC protein function (PMID: 7474892, 9056557). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000011755 SCV000031987 pathogenic Ornithine carbamoyltransferase deficiency 2002-02-01 no assertion criteria provided literature only
GenMed Metabolism Lab RCV000083607 SCV000115693 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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