ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)

dbSNP: rs1567191609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712640 SCV000843158 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000712640 SCV002758991 pathogenic not provided 2022-12-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21551026, 11115377, Ali2022[paper], Hosseinpour2022[paper])
Fulgent Genetics, Fulgent Genetics RCV005021113 SCV005641271 pathogenic Polycystic kidney disease, adult type 2024-02-14 criteria provided, single submitter clinical testing

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