Submissions for variant NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)

gnomAD frequency: 0.00053  dbSNP: rs147992238

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000500290	SCV000592851	uncertain significance	not specified	2016-06-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000764031	SCV000884336	likely benign	Polycystic kidney disease, adult type	2020-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764031	SCV000894985	uncertain significance	Polycystic kidney disease, adult type	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001796076	SCV002822243	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	PKD1: BP4, BS2
Ambry Genetics	RCV002527182	SCV003655578	uncertain significance	Inborn genetic diseases	2021-09-15	criteria provided, single submitter	clinical testing	The c.11353G>C (p.E3785Q) alteration is located in exon 40 (coding exon 40) of the PKD1 gene. This alteration results from a G to C substitution at nucleotide position 11353, causing the glutamic acid (E) at amino acid position 3785 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796076	SCV002035776	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796076	SCV002038226	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925440	SCV004743464	likely benign	PKD1-related disorder	2023-02-07	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).