Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232804 | SCV000286938 | likely pathogenic | Dilated cardiomyopathy 1G | 2016-01-01 | criteria provided, single submitter | clinical testing | This sequence change duplicates 1 nucleotide in exon 346 of the TTN mRNA (c.96069dupT), causing a frameshift at codon 32024. This creates a premature translational stop signal (p.Val32024Cysfs*31) 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 likely pathogenic (PMID: 25589632). For these reasons, this variant has been classified as Likely Pathogenic. |
Invitae | RCV001379540 | SCV001577358 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-01-01 | 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 likely pathogenic (PMID: 25589632). This sequence change duplicates 1 nucleotide in exon 346 of the TTN mRNA (c.96069dupT), causing a frameshift at codon 32024. This creates a premature translational stop signal (p.Val32024Cysfs*31) and is expected to result in an absent or disrupted protein product. |