ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=) (rs200717463)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218257 SCV000272738 uncertain significance not specified 2015-01-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Tyr20373Tyr v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 3/115068 chromosomes from several populations by t he Exome Aggregation Consortium (ExAC,; dbSNP rs2 00717463). Although this variant does not alter an amino acid residue, this vari ant is located in the last three bases of the exon, which is part of the 5? spli ce region. Computational tools do not suggest an impact to splicing. However, th is information is not predictive enough to rule out pathogenicity. In summary, w hile the clinical significance of the p.Tyr20373Tyr variant is uncertain, the fa ct that it does not alter an amino acid residue and that it is not predicted to alter splicing suggests that it is more likely to be benign.
Invitae RCV000473945 SCV000555222 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000218257 SCV000730404 likely benign not specified 2017-06-06 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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