ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.-144G>A (rs796053468)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189872 SCV000243525 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing c.-144 G>A in exon 1 of the TSC1 gene (NM_000368.4). The c.-144 G>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Data from control individuals were not available to assess whether c.-144 G>A may be a common benign variant in the general population. Several in-silico splice prediction models predict that c.-144 G>A damages the natural splice donor site and creates a strong cryptic donor site, which may supplant the natural donor site, leading to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this 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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