ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) (rs727504465)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155590 SCV000722511 likely benign not specified 2017-08-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155590 SCV000205298 likely benign not specified 2013-03-27 criteria provided, single submitter clinical testing The Lys33318Arg variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has also not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), though it may be c ommon in other populations. The variant amino acid (arginine, Arg) is present in other species, including many mammals. It is therefore highly unlikely that th is variant causes disease although a modifying effect cannot be ruled out.

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