Submissions for variant NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His)

gnomAD frequency: 0.00014  dbSNP: rs568163462

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000712610	SCV000843127	benign	not provided	2017-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003362923	SCV004055405	uncertain significance	Inborn genetic diseases	2023-07-07	criteria provided, single submitter	clinical testing	The c.3069G>C (p.Q1023H) alteration is located in exon 13 (coding exon 13) of the PKD1 gene. This alteration results from a G to C substitution at nucleotide position 3069, causing the glutamine (Q) at amino acid position 1023 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005357962	SCV005916306	uncertain significance	Polycystic kidney disease, adult type	2024-06-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945732	SCV004763852	likely benign	PKD1-related disorder	2024-08-12	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).