ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52405+4A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228571 SCV003925072 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2022-04-22 criteria provided, single submitter clinical testing The c.52405+4A>G splice-region variant identified in intron 274 (of 362) of the TTN gene has not previously been reported in the literature or public variant repositories (ClinVar and LOVD), and is absent from population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. In silico tools provide conflicting predictions about its potential effect on mRNAsplicing (varSEAK: Class 4, SpliceAI score = 0.01 (donor loss)). This variant is located in the A band of TTN, where most truncating variants associated with dilated cardiomyopathy are located [PMID:26777568, 27869827, 28045975]. Based on the available evidence, the c.52405+4A>G splice-region variant identified in the TTN gene is reported as a Variant of Uncertain Significance.

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