ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile) (rs368770038)

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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 RCV000152517 SCV000201703 uncertain significance not specified 2014-07-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val1024Ile vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/4406 of African American chromosomes by the NHLBI E xome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs368770038). Valine (Val) at position 1024 is conserved in mammals, though several other spec ies (softshell turtle, spiny softshell turtle, tetradon, madaka, southern platyf ish, and zebrafish) have an isoleucine (Ile) at this position, raising the possi bility that this change may be tolerated. Additional computational prediction to ols do not provide strong support for or against an impact to the protein. In su mmary, while the clinical significance of the Val1024Ile variant is uncertain, t he presence of the variant amino acid in other species suggests that it is more likely to be benign.
GeneDx RCV000152517 SCV000722334 likely benign not specified 2017-08-22 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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