ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) (rs767799831)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597212 SCV000705374 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing
Invitae RCV001206176 SCV001377472 uncertain significance Paroxysmal kinesigenic dyskinesia 2020-05-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 305 of the PRRT2 protein (p.Gly305Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs767799831, ExAC 0.02%). This variant has been observed in individuals with paroxysmal kinesigenic dyskinesia (PMID: 22209761, 22895590), and segregated with disease in related individuals. However it was also found in an individual who was not affected with PRRT2-related disease (PMID: 22895590). ClinVar contains an entry for this variant (Variation ID: 499732). This variant has been reported not to substantially affect PRRT2 protein function (PMID: 30980674). This variant disrupts the p.Gly305 amino acid residue in PRRT2. Other variant(s) that disrupt this residue have been observed in individuals with PRRT2-related conditions (PMID: 23077024), which suggests that this may be a clinically significant amino acid residue. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262975 SCV001441041 uncertain significance Seizures, benign familial infantile, 2 2019-01-01 criteria provided, single submitter clinical testing

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