ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)

dbSNP: rs1325300747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248738 SCV002518859 pathogenic Polycystic kidney disease, adult type 2022-05-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501425 SCV000592852 pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD1 p.Gln3821X variant was not identified in the literature nor was it identified in the 1000 Genomes Project, NHLBI GO Exome Sequencing Project (ESP), the Exome Aggregation Consortium (Mar 14, 2016) databases. In addition, the variant was also not identified in the dbSNP, Clinvitae, ClinVar, GeneInsight COGR, MutDB, ADPKD Mutation, PKD1-LOVD, and PKD1-LOVD 3.0 databases. The p.Gln3821X variant leads to a premature stop codon at position 3821, 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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