ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1160dup (p.Leu388fs) (rs878854075)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228535 SCV000285228 pathogenic Tuberous sclerosis 2 2016-01-01 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 12 of the TSC2 mRNA (c.1160dupT), causing a frameshift at codon 388. This creates a premature translational stop signal (p.Leu388Valfs*9) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.

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