ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93322A>G (p.Ile31108Val)

gnomAD frequency: 0.00001  dbSNP: rs727504787
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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 RCV000156105 SCV000205818 uncertain significance not specified 2013-10-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile28540Val var iant in TTN has not been reported in individuals with cardiomyopathy or in large population studies. Isoleucine (Ile) at position 28540 is not conserved in mamm als or across evolutionarily distant species and five other species (mouse lemur , bushbaby, chicken, zebra finch, and lizard) have a valine (Val) at this positi on suggesting that this change is tolerated. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest th at the Ile28540Val variant may not impact the protein, though this information i s not predictive enough to rule out pathogenicity. Additional information is nee ded to fully assess the clinical significance of the Ile28540Val variant.
Revvity Omics, Revvity RCV003137676 SCV003822979 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing

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