ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)

dbSNP: rs2092538738
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001249161 SCV001422363 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) RCV002273845 SCV002558716 pathogenic Polycystic kidney disease, adult type 2022-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002273845 SCV002815282 pathogenic Polycystic kidney disease, adult type 2022-04-05 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002273845 SCV005416203 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PVS1+PM2_Supporting
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292117 SCV001480974 pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD1 p.Gln1068X variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, LOVD 3.0, and PKD1-LOVD databases. The variant was identified in ADPKD Mutation database 1X as definitely pathogenic. The variant was not identified in the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The p.Gln1068X variant leads to a premature stop codon at position 1068, 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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