ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.579+3A>G

gnomAD frequency: 0.00001  dbSNP: rs372943232
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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 RCV001062443 SCV001227244 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 856882). This variant has not been reported in the literature in individuals affected with IMPDH1-related conditions. This variant is present in population databases (rs372943232, gnomAD 0.005%). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change falls in intron 7 of the IMPDH1 gene. It does not directly change the encoded amino acid sequence of the IMPDH1 protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV004735953 SCV005360464 uncertain significance IMPDH1-related disorder 2024-08-15 no assertion criteria provided clinical testing The IMPDH1 c.579+3A>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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