ClinVar Miner

Submissions for variant NM_020226.3(PRDM8):c.1643A>G (p.Lys548Arg) (rs1320311514)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687244 SCV000814801 uncertain significance Epilepsy, progressive myoclonic, 10 2018-02-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 548 of the PRDM8 protein (p.Lys548Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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