ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86435T>C (p.Ile28812Thr)

gnomAD frequency: 0.00001  dbSNP: rs727504959
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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 RCV000156366 SCV000206084 uncertain significance not specified 2014-02-06 criteria provided, single submitter clinical testing The Ile26244Thr 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 variant.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149956 SCV003838527 uncertain significance Cardiomyopathy 2021-10-13 criteria provided, single submitter clinical testing

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