Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000725684 | SCV000242383 | likely benign | not provided | 2021-06-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
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. |