Submissions for variant NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)

gnomAD frequency: 0.00067  dbSNP: rs141274774

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000992579	SCV000520767	likely benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30413633, 25646624)
Athena Diagnostics	RCV000992579	SCV001144980	likely benign	not provided	2018-12-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002136	SCV001159991	uncertain significance	Polycystic kidney disease, adult type	2019-03-15	criteria provided, single submitter	clinical testing	The PKD1 c.4055G>A; p.Ser1352Asn variant (rs141274774) is reported in the literature in several individuals affected with autosomal dominant polycystic kidney disease, although its clinical significance was not conclusively determined (Eisenberger 2015, Rossetti 2007). This variant is found in the non-Finnish European population with an overall allele frequency of 0.13% (162/126792 alleles) in the Genome Aggregation Database. The serine at codon 1352 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Ser1352Asn variant is uncertain at this time. References: Eisenberger T et al. An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease. PLoS One. 2015 Feb 3;10(2):e0116680. Rossetti S et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007 Jul;18(7):2143-60.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003987531	SCV004804316	likely benign	not specified	2024-01-09	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001002136	SCV005919513	likely benign	Polycystic kidney disease, adult type	2023-07-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000992579	SCV002034877	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000992579	SCV002036453	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922750	SCV004744623	likely benign	PKD1-related disorder	2023-12-13	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).