ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14402dup (p.Pro4801_Lys4802insTer)

dbSNP: rs876661397
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223905 SCV000280549 uncertain significance not specified 2014-01-25 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Leu3557ThrfsX9 (c.10670dupC) in the TTN gene We asked our clinical genome service team to review this variant. Based on their review, we consider it a variant of uncertain significance. The variant reported for this patient, c.10670dupG: p.Leu3557ThrfsX9, falls in the novex-2 unique sequence, in the I- band. This specific protein isoform has not been previously, explicitly associated with disease. It's thought that disease-causing variants in TTN are primarily truncation variants in the A-band. Although TTN has many different isoforms, those differences are primarily within the I-band, meaning that variants within the A-band will be present within all isoforms.

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