ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84451C>A (p.Pro28151Thr)

dbSNP: rs727504873
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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, Mass General Brigham Personalized Medicine RCV000156237 SCV000205953 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing The Pro25583Thr variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. Additional in formation is needed to fully assess the clinical significance of the Pro25583Thr variant.
Revvity Omics, Revvity RCV003137677 SCV003823569 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing

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