Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000802567 | SCV000942404 | uncertain significance | Episodic kinesigenic dyskinesia | 2019-09-24 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the PRRT2 gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A focal copy number gain involving only PRRT2 has not been reported in the literature but a gain of PRRT2 has been observed to be homozygous or hemizygous in an individual who was not affected with PRRT2-related disease (Invitae). However, a larger recurrent duplication of 550 kb that includes the entire PRRT2 gene and 27 neighboring genes has been reported in individuals with a 16p11.2 duplication syndrome (PMID: 24372385, 26629640, 19914906, 25421402, 26742926). ClinVar contains an entry for this variant (Variation ID: 468612). Experimental studies are not available for this variant, and the functional significance of a copy number gain of this gene is currently unknown. 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. |