ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe)

dbSNP: rs201409113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188782 SCV000242406 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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
Invitae RCV001363224 SCV001559326 uncertain significance Episodic kinesigenic dyskinesia 2023-06-05 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 206698). This variant has not been reported in the literature in individuals affected with PRRT2-related conditions. This variant is present in population databases (rs201409113, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 208 of the PRRT2 protein (p.Ser208Phe).

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