ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.774+1G>A (rs45517128)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423250 SCV000520880 pathogenic not provided 2017-01-03 criteria provided, single submitter clinical testing The c.774+1 G>A splice site variant in the TSC2 gene has been previously reported in association with TSC (Sancak et al., 2005; Au et al., 2007; TSC2 LOVD). This pathogenic variant destroys the canonical splice donor site in intron 8, and is expected to cause abnormal gene splicing. Additionally, the c.774+1 G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Tuberous sclerosis database (TSC2) RCV000043186 SCV000066986 not provided Tuberous sclerosis syndrome no assertion provided curation

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