ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91035G>A (p.Trp30345Ter)

dbSNP: rs1559200525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760582 SCV000890473 likely pathogenic not provided 2018-05-24 criteria provided, single submitter clinical testing The W28704X likely pathogenic variant in the TTN gene has not been reported as a pathogenic or benign to our knowledge. W28704X 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, W28704X 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, W28704X is not observed in large population cohorts (Lek et al., 2016).

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