SGCD NM_000337.6(SGCD):c.123C>G (p.Leu41=)

CI-VAR-00008756Explore in graph →p.Leu41=NM_000337.6:c.123C>GClinVar 48115 rs200670993

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
48115	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Autosomal recessive limb-girdle muscular dystrophy type 2F; Qualitative or quantitative defects of delta-sarcoglycan; Inborn genetic diseases; Familial cancer of breast	germline	12	Feb 03, 2026	clinvar