Submissions for variant NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)

dbSNP: rs555242193

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Cavalleri Lab, Royal College of Surgeons in Ireland	RCV001095603	SCV001251239	pathogenic	Polycystic kidney disease 2	2020-02-05	criteria provided, single submitter	research	PVS1, PM2, PP4, PP5
Fulgent Genetics, Fulgent Genetics	RCV001095603	SCV002800646	pathogenic	Polycystic kidney disease 2	2022-05-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001095603	SCV005202259	pathogenic	Polycystic kidney disease 2	2024-07-29	criteria provided, single submitter	clinical testing	Variant summary: PKD2 c.2286C>A (p.Tyr762X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251250 control chromosomes (gnomAD). c.2286C>A has been reported in the literature in individuals affected with Polycystic Kidney Disease 2 (e.g. Benson_2021). The following publication has been ascertained in the context of this evaluation (PMID: 33454723). ClinVar contains an entry for this variant (Variation ID: 562296). Based on the evidence outlined above, the variant was classified as pathogenic.
Gharavi Laboratory, Columbia University	RCV000681740	SCV000809196	pathogenic	not provided	2018-09-16	no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000681740	SCV002033908	pathogenic	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000681740	SCV002035352	pathogenic	not provided		no assertion criteria provided	clinical testing