ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5212del (p.Ser1738fs) (rs1596460606)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989441 SCV001139767 likely pathogenic Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989441 SCV001409691 pathogenic Tuberous sclerosis 2 2019-10-24 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TSC2 gene (p.Ser1738Profs*88). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 70 amino acids of the TSC2 protein and extend the protein by an additional 18 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant disrupts the C-terminus of the TSC2 protein. Other variant(s) that disrupt this region (p.Trp1740*) have been determined to be pathogenic (PMID: 25782670, 12136241, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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