ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.-65-2dup

dbSNP: rs1555502538
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658274 SCV000780045 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRRT2 gene. The c.-65-2dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. No data are available from ethnically-matched control populations to assess the frequency of this variant. Several in silico splice prediction models predict that c.-65-2dupA diminishes the natural acceptor site of intron 1 and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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