ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
deCODE genetics, Amgen RCV003485876 SCV004022117 likely pathogenic Dilated cardiomyopathy 1G 2023-07-21 no assertion criteria provided research The variant NM_001267550.2:c.105251C>G (chr2:178531364) in TTN was detected in 9 heterozygotes out of 58K WGS Icelanders (MAF= 0,008%). This variant has not been reported in ClinVar previously. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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