ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)

dbSNP: rs762911981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095548 SCV001251178 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292119 SCV001480976 pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD1 p.Gln2123* variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, LOVD 3.0, ADPKD Mutation Database, or PKD1-LOVD databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The p.Gln2123* variant leads to a premature stop codon at position 2123, 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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