ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1551-5C>A

dbSNP: rs370558710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046954 SCV001210881 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 844171). This variant has been observed in individual(s) with clinical features of IMPDH1-related conditions (Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 14 of the IMPDH1 gene. It does not directly change the encoded amino acid sequence of the IMPDH1 protein. 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.

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