ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu) (rs1560479209)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691092 SCV000818835 uncertain significance Epilepsy, progressive myoclonic, 10 2018-02-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 490 of the PRDM8 protein (p.Gln490Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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