Submissions for variant NM_001042681.2(RERE):c.1762C>T (p.Arg588Trp)

dbSNP: rs1641641189

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001767498	SCV001998347	uncertain significance	not provided	2019-11-12	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Neuberg Centre For Genomic Medicine, NCGM	RCV003339736	SCV004047328	uncertain significance	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		criteria provided, single submitter	clinical testing	The missense variant in c.1762C>T in RERE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg588Trp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Arg588Trp in RERE is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 588 is changed to a Trp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).