ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87236C>G (p.Ser29079Ter)

dbSNP: rs1057520580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442589 SCV000516122 pathogenic not provided 2015-04-10 criteria provided, single submitter clinical testing The S27438X variant in the TTN gene has not been reported previously as a pathogenic variant or as a benign polymorphism, to our knowledge. S27438X is predicted to cause loss of normal protein functioneither due to production of an abnormal, prematurely truncated protein, or by absence of protein productdue to nonsense mediated mRNA decay. Other truncating TTN variants have been reported inapproximately 3% of control alleles (Herman D et al., 2012). However, S27438X is located in the A-band region of titin, where the majority of truncating variants associated with DCM have been reported(Herman D et al., 2012). Furthermore, S27438X was not observed in approximately 6000 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. In summary, S27438X in the TTN gene is interpreted as a pathogenic variant.

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