ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg) (rs727503655)

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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 RCV000152416 SCV000201446 uncertain significance not specified 2014-06-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys4262Arg vari ant in TTN has not been previously reported in individuals with cardiomyopathy o r in large population studies. Computational prediction tools and conservation a nalysis are limited, but suggest that this variant may not impact the protein, t hough this information is not predictive enough to rule out pathogenicity. In ad dition, 4 mammals (ferret, star-nosed mole, tenrec, and opossum) carry an argini ne (Arg) at this position, suggesting that this change may be tolerated. In sum mary, while the clinical significance of the Lys4262Arg variant is uncertain, th e presence of the variant amino acid in other mammals suggests that it is more l ikely to be benign.
GeneDx RCV000152416 SCV000238184 likely benign not specified 2018-03-13 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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