ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.374T>A (p.Val125Glu)

dbSNP: rs2122988616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766936 SCV001989909 uncertain significance not provided 2019-05-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004754785 SCV005364600 uncertain significance PRKCG-related disorder 2024-03-23 no assertion criteria provided clinical testing The PRKCG c.374T>A variant is predicted to result in the amino acid substitution p.Val125Glu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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