ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.600-1G>A (rs45517117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685234 SCV000812707 pathogenic Tuberous sclerosis 2 2018-10-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 10533067, 12015165). ClinVar contains an entry for this variant (Variation ID: 49902). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043169 SCV000066969 not provided Tuberous sclerosis syndrome no assertion provided curation

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