ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs)

dbSNP: rs767123748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173172 SCV000224265 uncertain significance not provided 2014-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000173172 SCV003248088 pathogenic not provided 2023-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IMPDH1-related conditions. This sequence change creates a premature translational stop signal (p.Gln25Serfs*29) in the IMPDH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPDH1 are known to be pathogenic (PMID: 14981049, 33090715). This variant is present in population databases (rs767123748, gnomAD 0.01%).

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