ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)

dbSNP: rs747483368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626720 SCV000747423 pathogenic Polycystic liver disease 1; Polycystic kidney disease 2017-01-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000499751 SCV000592745 pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD1 p.Gln739X variant was not identified in the literature nor was it identified in dbSNP, Clinvitae, ClinVar, GeneInsight-COGR, MutDB, ADPKD Mutation Database, PKD1-LOVD, and PKD1-LOVD 3.0. The p.Gln739X variant leads to a premature stop codon at position 739, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the PKD1 gene are an established mechanism of disease in autosomal dominant polycystic kidney disease and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

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