ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.456A>G (p.Leu152=) (rs61735617)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757690 SCV000886009 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720978 SCV000851862 likely benign History of neurodevelopmental disorder 2013-02-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151682 SCV000230196 benign not specified 2014-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000151682 SCV000518314 benign not specified 2015-09-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000393656 SCV000481425 likely benign Arts syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283249 SCV000481426 likely benign Phosphoribosylpyrophosphate synthetase superactivity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342950 SCV000481427 likely benign Charcot-Marie-Tooth, X-linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393649 SCV000481428 likely benign Nonsyndromic Hearing Loss, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000539455 SCV000658924 benign Charcot-Marie-Tooth Neuropathy X 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151682 SCV000199988 benign not specified 2013-10-11 criteria provided, single submitter clinical testing Leu152Leu in Exon 04 of PRPS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 3.4% (109/3216) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61735617).
PreventionGenetics RCV000151682 SCV000309179 benign not specified criteria provided, single submitter clinical testing

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