ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107134A>C (p.Asn35712His)

gnomAD frequency: 0.00002  dbSNP: rs727504949
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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 RCV000156352 SCV000206070 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Asn33144His variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational prediction tools and conse rvation analysis do not provide strong support for or against an impact to the p rotein. Additional information is needed to fully assess the clinical significan ce of the Asn33144His variant.
GeneDx RCV001719980 SCV000237973 likely benign not provided 2019-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27930701)
Revvity Omics, Revvity RCV001719980 SCV003824748 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing

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