ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)

gnomAD frequency: 0.00014  dbSNP: rs374449452
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Total submissions: 4
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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 RCV000155836 SCV000205547 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing The Pro10036Ser variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8188 European American chromoso mes by the NHLBI Exome Sequencing Project (; db SNP rsrs374449452). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Pro10036S er variant.
Eurofins NTD LLC (GA) RCV000725087 SCV000333928 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV001084589 SCV000643010 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000155836 SCV000730578 likely benign not specified 2018-01-18 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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