ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5160+2_5160+3del (rs137854036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489070 SCV000577423 pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing The c.5160+2_5160+3delTG splice site variant in the TSC2 gene has been previously reported (as c.5178delTG using alternative nomenclature) as a de novo change in an individual with TSC (Jones et al., 1997). The c.5160+2_5160+3delTG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant destroys the canonical splice donor site of intron 40, and is expected to cause abnormal gene splicing. Therefore, this variant is interpreted to be pathogenic.
Tuberous sclerosis database (TSC2) RCV000043252 SCV000067053 not provided Tuberous sclerosis syndrome no assertion provided curation

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