ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2021G>A (p.Gly674Asp)

gnomAD frequency: 0.00004  dbSNP: rs772414205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732541 SCV001982749 uncertain significance not provided 2021-09-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001732541 SCV004227732 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing BP4, PM2

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