ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu)

dbSNP: rs763876127
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699412 SCV000828121 uncertain significance Progressive myoclonic epilepsy type 5 2018-05-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 247 of the PRICKLE2 protein (p.Phe247Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRICKLE2-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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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