ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1778+5G>A

dbSNP: rs1797745177
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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 RCV001075270 SCV001240885 uncertain significance Retinal dystrophy 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001209281 SCV001380707 uncertain significance not provided 2020-02-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IMPDH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 16 of the IMPDH1 gene. It does not directly change the encoded amino acid sequence of the IMPDH1 protein, but it affects a nucleotide within the consensus splice site of the intron. 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. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies.

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