Submissions for variant NM_078480.3(PUF60):c.389G>A (p.Arg130His)

dbSNP: rs1554643584

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	RCV000578200	SCV001984812	likely pathogenic	8q24.3 microdeletion syndrome	2020-08-17	criteria provided, single submitter	clinical testing	This variant has been previously reported as a de novo change in two patients with Verheij syndrome (VRJS, MIM: #615583) (PMID: 30160830, 29300383). It is absent from the gnomAD population database and thus is presumed to be rare. The c.389G>A (p.Arg130His) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.389G>A (p.Arg130His) variant is classified as Likely Pathogenic.
GeneDx	RCV001799688	SCV002044070	pathogenic	not provided	2021-12-23	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30160830, 29300383)
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School	RCV000578200	SCV000680060	pathogenic	8q24.3 microdeletion syndrome	2017-10-27	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001034553	SCV001197918	likely pathogenic	CHARGE syndrome		no assertion criteria provided	research