ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72526G>T (p.Glu24176Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Centre, Carl Von Ossietzky University Oldenburg RCV004813372 SCV005438240 likely pathogenic Dilated cardiomyopathy 1G 2024-03-04 no assertion criteria provided clinical testing This change results in the formation of a premature stop codon at protein position 24176. The variant affects an exon [326/363] present in a biologically relevant transcript and is predicted to cause protein truncation/absent due to nonsense mediated decay in a gene where loss-of-function is a known mechanism of disease. The variant has not yet been described in ClinVar. This variant is classified as very rare since it is absent in gnomAD v4.1.0. In summary, the variant is classified as likely pathogenic.

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