ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) (rs756212622)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002025 SCV001159848 pathogenic Polycystic kidney disease, adult type 2018-07-27 criteria provided, single submitter clinical testing The PKD1 c.12381C>G; p.Tyr4127Ter variant, to our knowledge, is reported in the literature in at least one individual affected with autosomal dominant polycystic kidney disease (ADPKD; Turco 1997). The variant is reported in the ADPKD database (see link), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Link to ADPKD database:http://pkdb.mayo.edu/cgi-bin/v2_desig_display.cgi?germ=Germline&gene=PKD1&designation=Y4127X&clinical=Definitely%20Pathogenic&score=&gene_mutation_id=2191&apkd_mode=PROD&username= Turco AE et al. Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. Hum Mutat. 1997;10(2):164-7.

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