ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3368_3369del (p.Lys1123fs) (rs878853967)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230614 SCV000284722 uncertain significance Tuberous sclerosis 1 2015-11-23 criteria provided, single submitter clinical testing This sequence change deletes two nucleotides in exon 23 of the TSC1 mRNA (c.3368_3369delAA), causing a frameshift at codon 1123. This creates a premature translational stop signal in the last exon of the TSC1 mRNA (p.Lys1123Argfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated TSC1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC1-related disease. In summary, this is a novel nonsense change, There is insufficient evidence at this time to conclude whether a truncation in the last exon of the TSC1 gene has a deleterious effect on TSC1 protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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