ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2016_2030dup (p.Pro674_Ala678dup)

dbSNP: rs1430327271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693218 SCV000821078 uncertain significance Tuberous sclerosis 2 2018-03-20 criteria provided, single submitter clinical testing This variant, c.2016_2030dup, results in the insertion of 5 amino acids to the TSC2 protein (p.Pro674_Ala678dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TSC2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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