ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)

dbSNP: rs1304701232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647202 SCV001519183 likely pathogenic Spinocerebellar ataxia type 14 2021-07-12 criteria provided, single submitter research
Athena Diagnostics RCV001664829 SCV001879850 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001664829 SCV005414936 uncertain significance not provided 2024-05-20 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; This variant is associated with the following publications: (PMID: 34445196, 34292398)

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