TTN NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)

CI-VAR-00008737Explore in graph →p.Arg23998HisNM_001267550.2:c.71993G>AClinVar 47305 rs10164753

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
47305	Benign	criteria provided, multiple submitters, no conflicts	2	Cardiovascular phenotype; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Early-onset myopathy with fatal cardiomyopathy; Dilated cardiomyopathy 1G; Malignant lymphoma, large B-cell, diffuse; Colon adenocarcinoma; Sarcoma; Uterine carcinosarcoma; Thymoma; Acute myeloid leukemia; Malignant tumor of esophagus; Adrenocortical carcinoma, hereditary; Cholangiocarcinoma; Hepatocellular carcinoma	germline	18	Mar 27, 2026	clinvar