ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr)

gnomAD frequency: 0.00004  dbSNP: rs201636905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725684 SCV000242383 likely benign not provided 2021-06-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725684 SCV000338584 uncertain significance not provided 2016-01-27 criteria provided, single submitter clinical testing
Invitae RCV000811192 SCV000951446 likely benign Episodic kinesigenic dyskinesia 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336500 SCV002619046 uncertain significance Inborn genetic diseases 2019-07-02 criteria provided, single submitter clinical testing The p.A118T variant (also known as c.352G>A), located in coding exon 1 of the PRRT2 gene, results from a G to A substitution at nucleotide position 352. The alanine at codon 118 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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