Submissions for variant NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)

gnomAD frequency: 0.00198  dbSNP: rs149522482

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180702	SCV000233182	uncertain significance	not provided	2018-09-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633437	SCV000754663	benign	Autosomal recessive polycystic kidney disease	2024-01-24	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001810434	SCV002060155	uncertain significance	Polycystic kidney disease 4	2021-11-04	criteria provided, single submitter	clinical testing	NM_138694.3(PKHD1):c.652G>A(E218K) is a missense variant classified as a variant of uncertain significance in the context of autosomal recessive polycystic kidney disease, PKHD1-related. E218K has been observed in cases with relevant disease (PMID: 16133180, 27225849, 25701400). Functional assessments of this variant are not available in the literature. E218K has been observed in population frequency databases (gnomAD: AFR 0.51%). In summary, there is insufficient evidence to classify NM_138694.3(PKHD1):c.652G>A(E218K) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Mayo Clinic Laboratories, Mayo Clinic	RCV000180702	SCV004227260	uncertain significance	not provided	2023-03-08	criteria provided, single submitter	clinical testing	BS1, PP4, PM3
CeGaT Center for Human Genetics Tuebingen	RCV000180702	SCV005041632	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PKHD1: BS2
Natera, Inc.	RCV000633437	SCV001453458	uncertain significance	Autosomal recessive polycystic kidney disease	2017-05-07	no assertion criteria provided	clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	RCV001844818	SCV001877011	likely benign	Autosomal dominant polycystic liver disease	2021-09-01	no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003917687	SCV004738340	likely benign	PKHD1-related disorder	2021-05-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).