ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.479G>T (p.Arg160Leu)

dbSNP: rs1555807032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503811 SCV000596587 uncertain significance not specified 2017-04-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713008 SCV000843572 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000713008 SCV005370807 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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