ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)

dbSNP: rs879255643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002500841 SCV002811239 likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease 2024-04-04 criteria provided, single submitter clinical testing
GeneDx RCV004719787 SCV005325786 likely pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect on cell surface localization of polycystin-1 (PMID: 27259053); 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; This variant is associated with the following publications: (PMID: 34310849, 27259053, 30484248, 37703354, 32378324, 34357571, 30652979)
OMIM RCV000239561 SCV000297930 pathogenic POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 2018-02-22 no assertion criteria provided literature only

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