ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215553 SCV001387304 pathogenic Paroxysmal kinesigenic dyskinesia 2019-07-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 324 of the PRRT2 protein (p.Gly324Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual and to segregate in a family with PRRT2-related seizures (Invitae, PMID: 23077026). This variant has been reported to affect PRRT2 protein function (PMID: 30980674). This variant disrupts the p.Gly324 amino acid residue in PRRT2. Other variant(s) that disrupt this residue have been observed in individuals with PRRT2-related conditions (PMID: 23077026), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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