Submissions for variant NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002850961	SCV003215461	pathogenic	Autosomal dominant polycystic kidney disease	2022-06-24	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PKD2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln622*) in the PKD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349).
PreventionGenetics, part of Exact Sciences	RCV003427509	SCV004107369	pathogenic	PKD2-related disorder	2023-02-27	criteria provided, single submitter	clinical testing	The PKD2 c.1864C>T variant is predicted to result in premature protein termination (p.Gln622*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKD2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989789	SCV004807161	uncertain significance	Polycystic kidney disease 2	2024-03-26	criteria provided, single submitter	clinical testing