ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1609dup (p.Arg537fs)

dbSNP: rs1555503131
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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 RCV000550259 SCV000644263 pathogenic Tuberous sclerosis 2 2017-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This sequence change inserts 1 nucleotide in exon 16 of the TSC2 mRNA (c.1609dupC), causing a frameshift at codon 537. This creates a premature translational stop signal (p.Arg537Profs*52) and is expected to result in an absent or disrupted protein product.

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