ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.-66+1G>A

gnomAD frequency: 0.00002  dbSNP: rs796052939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188776 SCV000242400 uncertain significance not provided 2014-08-14 criteria provided, single submitter clinical testing c.-66+1 G>A: IVS1+1 G>A in intron 1 of the PRRT2 gene (NM_145239.2)A variant of unknown significance has been identified in the PRRT2 gene. The c.-66+1 G>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.-66+1 G>A variant destroys the canonical splice donor site of non-coding exon 1, either leading to the inclusion of abnormal sequence into the 5' UTR or deletion of sequence normally included in the 5' UTR. However, to our knowledge, no regulatory mutations have been reported in the PRRT2 gene. Additionally, in the absence of RNA/functional studies, the actual effect of the c.-66+1 G>A sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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