ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.573G>A (p.Leu191=)

gnomAD frequency: 0.00035  dbSNP: rs770518315
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610806 SCV000717739 likely benign not specified 2017-04-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000654856 SCV000776758 benign Charcot-Marie-Tooth Neuropathy X 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024921 SCV002651618 likely benign Nephrolithiasis/nephrocalcinosis 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002498913 SCV002807896 likely benign Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity 2022-02-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726258 SCV001963112 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726258 SCV001975004 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001726258 SCV001978178 likely benign not provided no assertion criteria provided clinical testing

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