Submissions for variant NM_002764.4(PRPS1):c.477C>T (p.Ile159=)

gnomAD frequency: 0.00596  dbSNP: rs61752962

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080032	SCV000111926	benign	not specified	2014-02-19	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080032	SCV000199989	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Ile159Ile in Exon 04 of PRPS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.8% (42/5545) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs61752962)."
Invitae	RCV000204144	SCV000262494	benign	Charcot-Marie-Tooth Neuropathy X	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080032	SCV000309180	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362584	SCV000481430	benign	Hearing loss, X-linked 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000402522	SCV000481431	benign	Phosphoribosylpyrophosphate synthetase superactivity	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000308646	SCV000481432	benign	Arts syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001664331	SCV001874703	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000308646	SCV002031950	benign	Arts syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789127	SCV002031951	benign	Charcot-Marie-Tooth disease X-linked recessive 5	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000362584	SCV002031953	benign	Hearing loss, X-linked 1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000402522	SCV002031954	benign	Phosphoribosylpyrophosphate synthetase superactivity	2021-10-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498407	SCV002805045	likely benign	Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity	2021-07-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001664331	SCV003799602	benign	not provided	2023-10-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000080032	SCV001918956	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001664331	SCV001963181	likely benign	not provided		no assertion criteria provided	clinical testing