ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr)

gnomAD frequency: 0.00001  dbSNP: rs749515571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255082 SCV002526376 uncertain significance not provided 2022-06-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); 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
Fulgent Genetics, Fulgent Genetics RCV002496188 SCV002783805 uncertain significance Polycystic kidney disease, adult type 2022-01-10 criteria provided, single submitter clinical testing

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