Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229950 | SCV000286751 | likely pathogenic | Dilated cardiomyopathy 1G | 2016-01-14 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides in exon 302 of the TTN mRNA (c.59647_59648delGA), causing a frameshift at codon 19883. This creates a premature translational stop signal (p.Asp19883Serfs*5) 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 | RCV001379587 | SCV001577413 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-01-14 | 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 2 nucleotides in exon 302 of the TTN mRNA (c.59647_59648delGA), causing a frameshift at codon 19883. This creates a premature translational stop signal (p.Asp19883Serfs*5) and is expected to result in an absent or disrupted protein product. |