ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.12C>T (p.Ile4=)

gnomAD frequency: 0.00001  dbSNP: rs752590804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825221 SCV000966502 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ile4Ile in exon 1 of PRPS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2/47937 European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs752590804).
Labcorp Genetics (formerly Invitae), Labcorp RCV000899541 SCV001043817 benign Charcot-Marie-Tooth Neuropathy X 2024-06-09 criteria provided, single submitter clinical testing

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