ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1513C>T (p.Gln505Ter)

dbSNP: rs794729257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184206 SCV000236828 uncertain significance not provided 2014-04-29 criteria provided, single submitter clinical testing p.Gln505Stop (CAG>TAG): c.1513 C>T in exon 9 of the TTN gene (NM_001256850.1). The G505X variant in the TTN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. G505X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. However, the G505X variant is not located in the A-band region of TTN, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman D et al., 2012).Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in DCM-CRDM panel(s).

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