ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)

dbSNP: rs1057518783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536076 SCV001752775 pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414840 SCV000492572 pathogenic Polycystic kidney disease 2016-06-08 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000414840 SCV001480965 pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD1 p.Gln1696* variant was identified in 5 of 2244 proband chromosomes (frequency: 0.002) from individuals or families with ADPKD (Audrezet 2012, Hwang 2016, Rossetti 2007). The variant was also identified in dbSNP (ID: rs1057518783) as "With Pathogenic allele", ClinVar (classified as pathogenic by one clinical laboratory), and in ADPKD Mutation Database (as definitely pathogenic). The variant was not identified in COGR, LOVD 3.0, PKD1-LOVD, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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