ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.255-2A>G

gnomAD frequency: 0.00002  dbSNP: rs1238921380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199478 SCV001162521 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001306605 SCV001495985 likely pathogenic not provided 2023-04-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 813047). This variant has not been observed in the literature in individuals with autosomal recessive IMPDH1-related conditions. This variant has been reported in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 32531858); however, the role of the variant in this condition is currently unclear. This sequence change affects an acceptor splice site in intron 3 of the IMPDH1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IMPDH1 are known to be pathogenic (PMID: 14981049, 33090715).

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