ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) (rs794729286)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184262 SCV000236884 pathogenic not provided 2013-03-27 criteria provided, single submitter clinical testing p.Arg23443Stop (CGA>TGA): c.70327 C>T in exon 276 of the TTN gene (NM_001256850.1). The Arg23443Stop mutation in the TTN gene has not been reported previously as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg23443Stop 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 D et al., 2012). However, Arg23443Stop is located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). In summary, Arg23443Stop in the TTN gene is interpreted as a disease-causing mutation. The variant is found in DCM panel(s).
Blueprint Genetics RCV000184262 SCV000927360 likely pathogenic not provided 2017-07-28 criteria provided, single submitter clinical testing

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