ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.621del (p.Val208fs)

dbSNP: rs2147684810
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941661 SCV002233252 pathogenic Charcot-Marie-Tooth Neuropathy X 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val208Trpfs*4) in the PRPS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPS1 are known to be pathogenic (PMID: 24528855). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRPS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1454019). For these reasons, this variant has been classified as Pathogenic.

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