ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5984G>A (p.Arg1995His)

gnomAD frequency: 0.00005  dbSNP: rs752388015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227272 SCV003923635 uncertain significance not provided 2025-03-31 criteria provided, single submitter clinical testing Observed with a second variant (phase unknown) in a patient with polycystic kidney disease in published literature; the authors note this variant does not segregate with the phenotype but data is not shown (PMID: 11012875); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 11012875, Svobodova2008[Thesis])

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