ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16903+2T>C

dbSNP: rs1060500574
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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 RCV000465575 SCV000543096 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 57 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a disrupted protein product, but is not anticipated to result in nonsense mediated decay. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TTN-related disease. In summary, although this is a novel truncating variant, 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.

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