ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter)

dbSNP: rs1467686861
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552951 SCV000642998 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-05 criteria provided, single submitter clinical testing This variant identified in the TTN gene is located in the Z band of the resulting protein (PMID: 25589632). In summary, although this is a novel truncating variant in the Z band, truncating variants in this region have been shown to be highly prevalent in the TTN gene in the general population and unaffected individuals (PMID: 26701604, 22335739). As a result, 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. 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. This sequence change creates a premature translational stop signal at codon 1103 (p.Cys1103*) of the TTN gene. It is expected to result in a disrupted protein product.

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