Variant · Snv

TSC1 R1062W

CI-VAR-00003610Explore in graph →NP_000359.1:p.Arg1062TrpNM_000368.3:c.3184C>TClinVar 49015 CIViC 714 rs118203745

Curated evidence

Evidence by cancer (2 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–2 of 2 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Tuberous Sclerosis2unmapped disease
TSC1 R1062W	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID1768 Deep sequencing of TSC1 and TSC2 was performed on blood from a group of 38 sporadic Tuberous Sclerosis patients who had been previously studied with no mutation identified in TSC1 or TSC2. Five patien… (full text at CIViC) PMID 20165957 · Qin et al., 2010 · Open in CIViC	civic
TSC1 R1062W	(predisposing)	Predisposing	D	Supports Uncertain Significance	3	accepted	EID1921 The authors used a transfection based immunoblot assay to assess the impact of TSC1 (and TSC2) variants. Numerous variants were tested independently across 4 replicates and the mean and s.e.m. were pl… (full text at CIViC) PMID 21309039 · Hoogeveen-Westerveld et al., 2011 · Open in CIViC

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
49015	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Tuberous sclerosis syndrome; Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; Isolated focal cortical dysplasia type II; TSC1-related disorder	germline	15	Feb 01, 2026