ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44350G>A (p.Asp14784Asn)

dbSNP: rs72677216
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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, Mass General Brigham Personalized Medicine RCV000155833 SCV000205544 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing The Asp12216Asn variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 2/8360 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Asp12216Asn variant.
Eurofins Ntd Llc (ga) RCV000725102 SCV000334018 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149950 SCV003838623 uncertain significance Cardiomyopathy 2021-09-01 criteria provided, single submitter clinical testing

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