ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)

gnomAD frequency: 0.00003  dbSNP: rs201780393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788747 SCV000927972 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000788747 SCV005201483 uncertain significance not provided 2024-09-26 criteria provided, single submitter clinical testing Reported in patients with polycystic kidney disease, although the evidence is conflicting (PMID: 11316854, 27499327, 24907393); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24907393, 27499327, 11316854)
Fulgent Genetics, Fulgent Genetics RCV005021187 SCV005638608 uncertain significance Polycystic kidney disease, adult type 2024-04-05 criteria provided, single submitter clinical testing

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