Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000598357 | SCV000702535 | likely pathogenic | not provided | 2016-10-25 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001860163 | SCV002233514 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-04-25 | criteria provided, single submitter | clinical testing | This sequence change affects codon 22776 of the TTN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TTN protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of dilated cardiomyopathy (PMID: 22335739). ClinVar contains an entry for this variant (Variation ID: 497814). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Gene |
RCV000598357 | SCV005442891 | uncertain significance | not provided | 2024-07-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Identified in a proband with DCM in published literature (PMID: 22335739); This variant is associated with the following publications: (PMID: 22335739) |