Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463054 | SCV000542944 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2019-09-23 | criteria provided, single submitter | clinical testing | This sequence change deletes 14 nucleotides and inserts 1 nucleotide in exon 326 of the TTN mRNA (c.86290_86303delinsA), causing a frameshift at codon 28764. This creates a premature translational stop signal (p.Leu28764Metfs*7) and is expected to result in an absent or disrupted protein product. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are significantly overrepresented in patients with dilated cardiomyopathy and are considered to be likely pathogenic for the disease (PMID: 25589632). ClinVar contains an entry for this variant (Variation ID: 405044). For these reasons, this variant has been classified as Likely Pathogenic. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798827 | SCV002043026 | likely pathogenic | Cardiomyopathy | 2021-04-07 | criteria provided, single submitter | clinical testing |