ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile)

gnomAD frequency: 0.00001  dbSNP: rs201468618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731061 SCV000858832 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003758918 SCV004404209 uncertain significance Episodic kinesigenic dyskinesia 2022-12-09 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRRT2 protein function. This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 116 of the PRRT2 protein (p.Lys116Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRRT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 595501). 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.
GeneDx RCV000731061 SCV005385605 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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