ClinVar Miner

Submissions for variant NM_020226.3(PRDM8):c.1367G>A (p.Arg456Lys) (rs940171879)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543916 SCV000655916 uncertain significance Epilepsy, progressive myoclonic, 10 2018-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 456 of the PRDM8 protein (p.Arg456Lys). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and lysine. While this variant is not present in population databases, the frequency information is 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 disease. ClinVar contains an entry for this variant (Variation ID: 475667). 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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