ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys) (rs727503682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152484 SCV000201616 uncertain significance not specified 2013-03-26 criteria provided, single submitter clinical testing The Arg3145Lys variant in TTN has not been reported in the literature nor previo usly 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 pr esent in other populations. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppo rt for or against an impact to the protein. However, zebrafish does carry a lysi ne (Lys; this variant) at this position, raising the possibility that this varia nt may be tolerated. In summary, additional information is needed to fully asses s the clinical significance of this variant.
GeneDx RCV000152484 SCV000727547 likely benign not specified 2018-02-06 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.

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