Submissions for variant NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg)

gnomAD frequency: 0.00004  dbSNP: rs776110243

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001763667	SCV002001042	uncertain significance	not provided	2020-06-03	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV002489794	SCV002793035	uncertain significance	Polycystic kidney disease, adult type	2022-03-18	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital Muenster	RCV003128429	SCV003804897	uncertain significance	See cases	2022-11-15	criteria provided, single submitter	clinical testing	ACMG categories: PM2,BP1
Ambry Genetics	RCV003163880	SCV003888579	uncertain significance	Inborn genetic diseases	2023-02-15	criteria provided, single submitter	clinical testing	The c.1603G>A (p.G535R) alteration is located in exon 7 (coding exon 7) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 1603, causing the glycine (G) at amino acid position 535 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.