ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34894C>A (p.Leu11632Ile)

gnomAD frequency: 0.00003  dbSNP: rs727503633
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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 RCV000152367 SCV000201293 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Leu1033Ile variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Add itional information is needed to fully assess the clinical significance of the v ariant.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149929 SCV003838021 likely benign Cardiomyopathy 2021-12-24 criteria provided, single submitter clinical testing

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