ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) (rs764431330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788513 SCV000927660 pathogenic not provided 2018-04-27 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001251463 SCV001427163 pathogenic Polycystic kidney disease, adult type 2018-07-12 criteria provided, single submitter clinical testing A heterozygous nonsense variant, NM_001009944.2(PKD1):c.12061C>T, has been identified in exon 44 of 46 of the PKD1 gene. The variant is predicted to result in a premature stop codon at position 4021 of the protein (NP_001009944.2(PKD1):p.(Arg4021*)), likely resulting in loss of protein function through truncation, which includes the PKD channel domain (Rossetti, S. et al., 1996). However, loss of function via NMD has not been excluded. The variant is absent in population databases (gnomAD, dbSNP, 1000G), however, it has been reported in at least three patients with kidney cysts and been shown to segregate with disease (Rossetti, S. et al., 1996). In addition, other heterozygous truncating variants located downstream have been reported as pathogenic in individuals with this condition (ClinVar). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.

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