ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)

dbSNP: rs45517258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441714 SCV004169202 pathogenic not provided 2023-04-19 criteria provided, single submitter clinical testing Reported previously in a patient with West syndrome, cardiac rhabdomyomas, subependymal calcifications, cortical tubers, and white patches on skin (Yamamoto et al., 2002); Published functional studies demonstrate a damaging effect and showed significantly increased T389/S6K phosphorylation levels indicating that this variant is not tolerated (Hoogeveen-Westerveld et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21345208, 29803333, 30255984, 19028034, 26706013, 17120248, 12015165, 21309039)
OMIM RCV000013214 SCV000033461 pathogenic Tuberous sclerosis 2 2006-11-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC2) RCV000042482 SCV000066273 not provided Tuberous sclerosis syndrome no assertion provided curation

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