ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)

dbSNP: rs199476095
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788852 SCV000928120 pathogenic not provided 2018-12-14 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV000008681 SCV001251200 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM1, PP4, PP5
Molecular Biology Laboratory, Fundació Puigvert RCV000008681 SCV001425160 pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
GeneDx RCV000788852 SCV002762320 pathogenic not provided 2022-12-06 criteria provided, single submitter clinical testing Observed in multiple unrelated individuals with autosomal dominant polycystic kidney disease in published literature (Peral et al., 1996; Peral et al., 1997; Hoefele et al., 2011; He et al., 2018); Published functional studies demonstrate a damaging effect; variant protein results in loss of heterodimerization with PKD2 and a failure to produce ion channel activity (Hanaoka et al., 2000); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 75 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25365220, 11115377, 9199561, 21115670, 17582161, 33454723, 35177841, 30333007, 8554072, 11140688)
Fulgent Genetics, Fulgent Genetics RCV000008681 SCV002778807 pathogenic Polycystic kidney disease, adult type 2022-04-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000788852 SCV004229846 pathogenic not provided 2023-07-31 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. In some published literature, this variant is referred to as c.12682C>T, p.Arg4228X. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 11140688)
OMIM RCV000008681 SCV000028890 pathogenic Polycystic kidney disease, adult type 1996-01-01 no assertion criteria provided literature only

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