ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1839+1G>T (rs45438400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498860 SCV000589551 pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing The c.1839+1 G>T splice site variant in the TSC2 gene has been reported multiple timespreviously reported in association with TSC (Crino et al., 2010; TSC2 LOVD). This pathogenic variant destroys the canonical splice donor site in intron 17, and is expected to cause abnormal gene splicing. The c.1839+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of c.1839+1 G>T is consistent with the diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000043446 SCV000067253 not provided Tuberous sclerosis syndrome no assertion provided curation

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