ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222585 SCV001394690 uncertain significance Epilepsy, progressive myoclonic, 10 2019-06-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRDM8 gene (p.Gln518*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 172 amino acids of the PRDM8 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRDM8-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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