ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1449C>T (p.Gly483=)

gnomAD frequency: 0.00002  dbSNP: rs987570514
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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 RCV001321569 SCV001512405 uncertain significance not provided 2023-07-17 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. ClinVar contains an entry for this variant (Variation ID: 1021754). This variant has not been reported in the literature in individuals affected with IMPDH1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change affects codon 483 of the IMPDH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IMPDH1 protein.
Dept Of Ophthalmology, Nagoya University RCV003888023 SCV004704771 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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