ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11399C>T (p.Pro3800Leu)

gnomAD frequency: 0.00001  dbSNP: rs2091613857
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002305900 SCV002599459 uncertain significance not provided 2024-02-21 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; Reported in a patient with autosomal dominant polycystic kidney disease; however, familial segregation information and additional clinical information were not provided (PMID: 35778421); This variant is associated with the following publications: (PMID: 35778421)

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