ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys)

gnomAD frequency: 0.00002  dbSNP: rs747376234
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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,Mass General Brigham Personalized Medicine RCV000218075 SCV000272592 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing The p.Ser5958Cys variant in TTN has not been previously reported in individuals with cardiomyopathy and data from large population studies is insufficient to as sess the frequency of this variant. Computational prediction tools and conservat ion analysis do not provide strong support for or against an impact to the prote in. In summary, the clinical significance of the p.Ser5958Cys variant is uncerta in.
GeneDx RCV000218075 SCV000723151 likely benign not specified 2017-09-18 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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