ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035537 SCV001198866 uncertain significance Epilepsy, progressive myoclonic, 10 2019-01-02 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 564 of the PRDM8 protein (p.Ser564Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRDM8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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