ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) (rs1060500405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457096 SCV000542302 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-02-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in exon 245 of the TTN mRNA at codon 15108 (p.Arg15108*). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated TTN protein. This variant is present in I band of the TTN protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 26084686). In summary, although this is a rare truncating variant in the I band, truncating variants have been shown to be highly prevalent in the TTN gene in the general population and unaffected individuals (PMID: 26701604, 22335739). Furthermore, this truncation is located outside of a clinically relevant region of the TTN gene (PMID: 25589632). For these reasons it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV000788734 SCV000927955 likely pathogenic not provided 2018-09-26 criteria provided, single submitter clinical testing

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