ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2T>A (p.Met1Lys)

dbSNP: rs2084667702
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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 RCV001891847 SCV002138652 likely pathogenic Tuberous sclerosis 2 2024-02-14 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TSC2 mRNA. The next in-frame methionine is located at codon 50. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with clinical features of tuberous sclerosis complex (Invitae). ClinVar contains an entry for this variant (Variation ID: 1378864). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects TSC2 function (PMID: 22903760). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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