Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000024390 | SCV000333917 | uncertain significance | not provided | 2015-08-26 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV004786247 | SCV005399705 | uncertain significance | Caveolinopathy | 2024-10-10 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.5, this variant is classified as a VUS-3A. Following criteria are met: 0104 - Dominant negative is a known mechanism of disease in this gene and is associated with caveolinopathy (MONDO:0016146). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0115 - Variants in this gene are known to have variable expressivity. The same mutation can lead to heterogeneous clinical phenotypes and muscle histopathological changes (PMID: 19584897). (I) 0213 - In-frame deletion in a non-repetitive region that has high conservation. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (v2, v3 and v4). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v4; 2 heterozygotes, 0 homozygotes). (I) 0600 - Variant is located in the annotated caveolin family domain (DECIPHER). (I) 0705 - No comparable in-frame deletion variants have previous evidence for pathogenicity. (I) 0803 - This variant has limited previous evidence of pathogenicity in an unrelated individual. The variant is reported to be present in six affected individuals from the same family with elevated creatine kinase and variable muscle involvement (PMID: 14663034). (SP) 0901 - This variant has strong evidence for segregation with disease. This variant segregates within a large single family (PMID: 14663034). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
| OMIM | RCV000008781 | SCV000028991 | pathogenic | Elevated circulating creatine kinase concentration | 2005-01-01 | no assertion criteria provided | literature only | |
| OMIM | RCV000008782 | SCV000028992 | pathogenic | Rippling muscle disease 2 | 2005-01-01 | no assertion criteria provided | literature only | |
| Leiden Muscular Dystrophy |
RCV000024390 | SCV000045684 | not provided | not provided | 2012-04-15 | no assertion provided | curation |