Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545046 | SCV000642464 | likely pathogenic | Dilated cardiomyopathy 1G | 2017-05-22 | criteria provided, single submitter | clinical testing | This sequence change deletes 4 nucleotides from exon 326 of the TTN mRNA (c.77147_77150delCTCT), causing a frameshift at codon 25716. This creates a premature translational stop signal (p.Ser25716*) 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). For these reasons, this variant has been classified as Likely Pathogenic. |
Invitae | RCV001378784 | SCV001576437 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2020-10-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Likely Pathogenic. 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). This sequence change deletes 4 nucleotides from exon 326 of the TTN mRNA (c.77147_77150delCTCT), causing a frameshift at codon 25716. This creates a premature translational stop signal (p.Ser25716*) and is expected to result in an absent or disrupted protein product. |