ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82350T>A (p.Tyr27450Ter)

gnomAD frequency: 0.00001  dbSNP: rs1060503941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000524068 SCV000621683 likely pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing The Y25809X likely pathogenic variant in the TTN gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is predicted to cause loss of normal protein function either due to production of an abnormal, prematurely truncated protein, or by absence of protein product due to nonsense mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman et al., 2012). However, the Y25809X variant is located in the A-band region of titin, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman et al., 2012). Furthermore, the Y25809X variant is not observed in large population cohorts (Lek et al., 2016).

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