Submissions for variant NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003049931	SCV003338600	pathogenic	Autosomal recessive polycystic kidney disease	2022-07-23	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 PKHD1-related conditions. This sequence change creates a premature translational stop signal (p.Trp3260*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is not present in population databases (gnomAD no frequency).
PreventionGenetics, part of Exact Sciences	RCV003898708	SCV004711230	likely pathogenic	PKHD1-related disorder	2024-01-19	criteria provided, single submitter	clinical testing	The PKHD1 c.9780G>A variant is predicted to result in premature protein termination (p.Trp3260*). This variant, along with a second PKHD1 variant, has been reported in an individual with polycystic kidney disease (Li et al. 2023. PubMed ID: 36835961). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in PKHD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.