ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter) (rs145263744)

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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 RCV001002321 SCV001160214 pathogenic Polycystic kidney disease, adult type 2019-01-06 criteria provided, single submitter clinical testing The PKD1 c.3792C>A; p.Tyr1264Ter variant, to our knowledge, is not reported in the medical literature but is reported in the ADPKD mutation database (see link). This variant 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, the p.Tyr1264Ter variant is considered to be pathogenic. References: Link to ADPKD mutation database: http://pkdb.mayo.edu/cgi-bin/v2_desig_display.cgi?germ=Germline&gene=PKD1&designation=Y1264X&clinical=Definitely%20Pathogenic&score=&gene_mutation_id=2158&apkd_mode=PROD&username=

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