ClinVar Miner

Submissions for variant NM_016097.5(IER3IP1):c.230T>A (p.Leu77Ter)

gnomAD frequency: 0.00001  dbSNP: rs2063958344
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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 RCV001905041 SCV002130205 uncertain significance Microcephaly, epilepsy, and diabetes syndrome 2021-06-25 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. This variant has not been reported in the literature in individuals affected with IER3IP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu77*) in the IER3IP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the IER3IP1 protein.

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