ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.862C>T (p.Arg288Cys)

gnomAD frequency: 0.00001  dbSNP: rs144929093
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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 RCV001073727 SCV001239286 uncertain significance Retinal dystrophy 2017-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003736970 SCV004553682 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 866030). This variant has not been reported in the literature in individuals affected with IMPDH1-related conditions. This variant is present in population databases (rs144929093, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 288 of the IMPDH1 protein (p.Arg288Cys).

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