ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)

dbSNP: rs1578147448
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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 RCV001002163 SCV001160022 pathogenic Polycystic kidney disease 2 2018-10-29 criteria provided, single submitter clinical testing The PKD2 c.2242A>T; p.Lys748Ter variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also 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.Lys748Ter variant is considered to be pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001002163 SCV002810476 pathogenic Polycystic kidney disease 2 2021-08-31 criteria provided, single submitter clinical testing

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