SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)

CI-VAR-00008458Explore in graph →p.Ala510ValNM_003119.4:c.1529C>TClinVar 42016 rs61755320

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
42016	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary spastic paraplegia 7; Spastic Paraplegia, Recessive; Hereditary spastic paraplegia; Inborn genetic diseases; Gait ataxia; Cerebral cortical atrophy; Dysarthria; Spastic paraparesis; Intellectual disability; Sensorimotor neuropathy; Spastic ataxia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; SPG7-related disorder; Retinal dystrophy; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma; Acute myeloid leukemia; Clear cell carcinoma of kidney; Sarcoma; Hepatocellular carcinoma; Cervical cancer; Uveal melanoma; Gastric cancer; Lung cancer; Familial cancer of breast; Optic neuropathy; Possible mitochondrial disorder - nuclear genes; Mitochondrial DNA maintenance disorder	germline	74	Jun 25, 2026	clinvar