ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)

dbSNP: rs1364976535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756523 SCV000884358 pathogenic not provided 2017-12-22 criteria provided, single submitter clinical testing The PKD1 c.8560C>T; p.Gln2854Ter variant is reported in the literature in two families with autosomal dominant polycystic kidney disease (ADPKD) (Audrezet 2012). The variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). The p.Gln2854Ter variant induces an early termination codon and is predicted to result in a truncated protein or mRNA that is subject to nonsense mediated decay. Based on the above information, this variant is considered pathogenic. References: Audrezet MP et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012 Aug;33(8):1239-50.
Fulgent Genetics, Fulgent Genetics RCV002485956 SCV002776443 pathogenic Polycystic kidney disease, adult type 2021-10-30 criteria provided, single submitter clinical testing

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