CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)

CI-VAR-00005846Explore in graph →p.Ser113LeuNM_000098.3:c.338C>TClinVar 8953 rs74315294

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
8953	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4; Carnitine palmitoyl transferase II deficiency, severe infantile form; Inborn genetic diseases; Rhabdomyolysis; Abnormality of the musculature; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary; Lung cancer; Clear cell carcinoma of kidney; Acute myeloid leukemia; Nonpapillary renal cell carcinoma; Fetal anomalies with a likely genetic cause; Ovarian serous cystadenocarcinoma; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma; CPT2-related disorder	germline	54	Jun 22, 2026	clinvar