ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11557G>A (p.Glu3853Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991243 SCV004808569 uncertain significance Polycystic kidney disease, adult type 2021-08-17 criteria provided, single submitter clinical testing ACMG Criteria: PS4_SUP, PM2_SUP, PP3 (ACMG Version 3)
GeneDx RCV004759347 SCV005373442 uncertain significance not provided 2023-05-31 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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