ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.326_328del (p.Gln109_Ala110delinsPro)

dbSNP: rs1846810976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237601 SCV001410367 uncertain significance Tuberous sclerosis 1 2019-07-21 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with TSC1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.326_328del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acids in the TSC1 protein (p.Gln109_Ala110delinsPro).

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