ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16695C>A (p.Cys5565Ter)

dbSNP: rs1064796647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482483 SCV000573577 uncertain significance not provided 2017-02-22 criteria provided, single submitter clinical testing The C4321X variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay, and it is located in the I-band. The C4321X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret C4321X as a variant of uncertain significance.

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