Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238633 | SCV001411457 | pathogenic | Long QT syndrome | 2020-01-30 | criteria provided, single submitter | clinical testing | Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing and affects protein function (PMID: 16730439, 21294223). This variant has been observed in the heterozygous and homozygous state in individuals affected with clinical features of caveolinopathies (PMID: 26185955, 16730439). ClinVar contains an entry for this variant (Variation ID: 31740). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 1 of the CAV3 gene. It does not directly change the encoded amino acid sequence of the CAV3 protein, but it affects a nucleotide within the consensus splice site of the intron. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002496441 | SCV002807570 | pathogenic | Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type | 2021-11-24 | criteria provided, single submitter | clinical testing | |
Leiden Muscular Dystrophy |
RCV000024426 | SCV000045721 | not provided | not provided | 2012-04-15 | no assertion provided | curation |