ClinVar Miner

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

dbSNP: rs878854075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228535 SCV000285228 pathogenic Tuberous sclerosis 2 2016-01-01 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). 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. For these reasons, this variant has been classified as Pathogenic.

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