ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1433C>G (p.Thr478Ser)

dbSNP: rs564132747
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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 RCV002042732 SCV002295716 uncertain significance not provided 2023-02-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 478 of the IMPDH1 protein (p.Thr478Ser). This variant is present in population databases (rs564132747, gnomAD 0.006%). 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: 1501111). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Dept Of Ophthalmology, Nagoya University RCV003888994 SCV004704774 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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