ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln)

dbSNP: rs2112399256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773191 SCV002003943 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992545 SCV004810294 uncertain significance Obesity due to prohormone convertase I deficiency 2024-04-04 criteria provided, single submitter clinical testing

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