ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5069-18A>G

dbSNP: rs45484794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068320 SCV001233426 pathogenic Tuberous sclerosis 2 2022-10-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 49345). This variant is also known as IVS38-18A>G. This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 10533066, 21520333; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 39 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. Studies have shown that this variant results in multiple mRNA products and introduces a premature termination codon (PMID: 10533066, 11068191). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042605 SCV000066399 not provided Tuberous sclerosis syndrome no assertion provided curation

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