Submissions for variant NM_173543.3(DZIP1L):c.1825G>A (p.Gly609Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002765219	SCV003760429	uncertain significance	Inborn genetic diseases	2022-01-27	criteria provided, single submitter	clinical testing	The c.1825G>A (p.G609R) alteration is located in exon 13 (coding exon 12) of the DZIP1L gene. This alteration results from a G to A substitution at nucleotide position 1825, causing the glycine (G) at amino acid position 609 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neuberg Centre For Genomic Medicine, NCGM	RCV003340657	SCV004047315	uncertain significance	Polycystic kidney disease 5		criteria provided, single submitter	clinical testing	The missense variant p.G609R in DZIP1L (NM_173543.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G609R variant is observed in 2/978 (0.2045%) alleles from individuals of South Asian background in 1000 Genomes, which is greater than expected for the disorder. There is a moderate physicochemical difference between glycine and arginine. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Gly609Arg in DZIP1L is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance