ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.705-4C>T

dbSNP: rs1925730100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002203341 SCV002483869 likely benign Charcot-Marie-Tooth Neuropathy X 2024-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047116 SCV002661520 uncertain significance Nephrolithiasis/nephrocalcinosis 2019-09-20 criteria provided, single submitter clinical testing The c.705-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 6 in the PRPS1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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