ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99502G>T (p.Glu33168Ter)

dbSNP: rs1064794982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479627 SCV000570339 likely pathogenic not provided 2019-01-04 criteria provided, single submitter clinical testing The E31527X variant in the TTN gene has not been reported as a pathogenic variant or a benign variant, to our knowledge. This variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The E31527X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although, truncating TTN variants have been reported in approximately 3% of control alleles (Herman D et al., 2012), E31527X is located in the A-band region of titin, where the majority of pathogenic truncating variants associated with dilated cardiomyopathy have been reported (Herman D et al., 2012). Therefore, we interpret E31527X as likely pathogenic variant.

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