ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69261G>A (p.Trp23087Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV005055469 SCV005689545 likely pathogenic Dilated cardiomyopathy 1G 2024-10-21 criteria provided, single submitter clinical testing The c.69261G>A (p.Trp23087*) nonsense variant in the TTN gene was found on WES data in a 60-y.o. female proband diagnosed with arrhythmogenic cardiomyopathy. This variant is absent in databases (gnomAD, LOVD) and predicted to introduce a premature translation termination codon. According to NMD Esc Predictor and AutoPVS1, mRNA carrying this variant, will be processed through nonsense-mediated decay mechanism, leading to haploinsufficiency. For these reasons, this variant has been classified as Likely Pathogenic.

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