ClinVar Miner

Submissions for variant NM_001130009.3(GEN1):c.1369C>T (p.Gln457Ter)

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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 RCV003724866 SCV004514682 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln457*) in the GEN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 452 amino acid(s) of the GEN1 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GEN1-related conditions. 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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