ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)

dbSNP: rs45517398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190040 SCV000243714 likely pathogenic not provided 2021-11-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 18466115, 29655203, 16981987, 15798777, 15712319)
CeGaT Center for Human Genetics Tuebingen RCV000190040 SCV001501582 likely pathogenic not provided 2025-02-01 criteria provided, single submitter clinical testing TSC2: PM2, PS4:Moderate, PP3, PP4
Genome-Nilou Lab RCV001797601 SCV002041020 likely pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042612 SCV000066406 not provided Tuberous sclerosis syndrome no assertion provided curation

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