Aliases: VINC.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Dilated Cardiomyopathy 1W | causative germline loss of function |
mechanism: Metavinculin Tail Variant Altering Actin Cross-Linking; VCL Predicted Loss-of-Function Allele
variant: VCL p.Arg547*; VCL p.Arg975Trp; VCL p.Leu954del; VCL p.Lys815Arg
animal model: Cardiomyocyte-specific vinculin knockout mouse; Vinculin Y822F knock-in mouse
|
| Hypertrophic Cardiomyopathy 15 | disputed germline gain of function |
mechanism: VCL Missense Variant in Vinculin or the Metavinculin Insert
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| TARP syndrome |
untyped
Splicing target
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| hypertrophic cardiomyopathy MONDO:0005045 | AD | Disputed 2023-05-10 |
Hypertrophic Cardiomyopathy
not named
|
| congenital heart disease MONDO:0005453 | UD | No Known Disease Relationship 2024-07-08 |
Congenital Heart Disease
not named
|
| dilated cardiomyopathy 1W MONDO:0012667 | AD | Strong 2026-03-04 |
Dilated Cardiomyopathy 1W
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.