ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95735del (p.Pro31912fs)

dbSNP: rs1553519454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546824 SCV000642481 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-06-11 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change results in a premature translational stop signal in the TTN gene (p.Pro31912Hisfs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4,080 amino acids of the TTN protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Takotsubo Cardiomyopathy in a family (Invitae). 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).

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