ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.281G>T (p.Gly94Val)

gnomAD frequency: 0.00001  dbSNP: rs1192233271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075257 SCV001240872 uncertain significance Retinal dystrophy 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001301485 SCV001490657 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 94 of the IMPDH1 protein (p.Gly94Val). This variant has not been reported in the literature in individuals affected with IMPDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 866892). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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