ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) (rs45517327)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201169 SCV000255896 pathogenic Tuberous sclerosis 2 2013-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000760364 SCV000890226 pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing The E1366X variant in the TSC2 gene, also reported as E1343X, has been reported previously in unrelated individuals with Tuberous Sclerosis Complex (Dabora et al., 2001; Yu et al., 2017). Both reported cases were considered sporadic; one individual, a 21 month old female, presented with seizures at 10 months of age, hypopigmented macules, and cortical tubers, but did not have facial angiofibromas nor cardiac rhabdomyomas (Yu et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E1366X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E1366X as a pathogenic variant
Tuberous sclerosis database (TSC2) RCV000042815 SCV000066611 not provided Tuberous sclerosis syndrome no assertion provided curation

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