Submissions for variant NM_001267550.2(TTN):c.69367G>T (p.Gly23123Ter)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000497760	SCV000589784	likely pathogenic	not provided	2016-03-02	criteria provided, single submitter	clinical testing	The G21482X variant in the TTN gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. However, the G21482X likely pathogenic variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the TTN gene have been reported in HGMD in association with dilated cardiomyopathy (Stenson et al., 2014). Moreover, the G21482X likely pathogenic 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). Finally, the G21482X likely pathogenic variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, G21482X in the TTN gene is expected to be pathogenic

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