ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10840G>T (p.Glu3614Ter)

gnomAD frequency: 0.00002  dbSNP: rs540059730
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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 RCV000558686 SCV000642628 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-04-25 criteria provided, single submitter clinical testing This variant is located in the I band of TTN (PMID: 25589632). Truncating variants in this region have been shown to be highly prevalent in the general population and unaffected individuals (PMID: 26701604, 22335739). However, truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported in the literature in a control individual (PMID: 28822653). ClinVar contains an entry for this variant (Variation ID: 466777). This variant is present in population databases (rs540059730, ExAC 0.1%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This sequence change results in a premature translational stop signal in the TTN gene (p.Glu3614*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein.

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