ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-10A>G

dbSNP: rs1800718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408337 SCV001610335 likely benign Tuberous sclerosis 2 2024-03-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006911 SCV004831596 likely benign Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151313 SCV003839175 likely benign not specified 2022-12-22 no assertion criteria provided clinical testing DNA sequence analysis of the TSC2 gene demonstrated a sequence change in intron 40, c.5161-10A>G. This change does not appear to have been previously described in individuals with TSC2-related disorders and has also not been described in population databases such as ExAC and gnomAD. This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the TSC2 gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.

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