ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1499C>T (p.Thr500Ile)

dbSNP: rs727503704
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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 RCV000152525 SCV000201714 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr500Ile varia nt in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Threonine (Thr) at position 500 is not conserved i n mammals or evolutionarily distant species and rat carries an isoleucine (Ile), supporting that this change may be tolerated. Additional computational predicti on tools suggest that the Thr500Ile variant may not impact the protein, though t his information is not predictive enough to rule out pathogenicity. In summary, although these data support that the Thr500Ile variant may be benign, additional studies are needed to fully assess its clinical significance.
PreventionGenetics, part of Exact Sciences RCV004528880 SCV004107982 uncertain significance TTN-related disorder 2023-01-11 criteria provided, single submitter clinical testing The TTN c.1499C>T variant is predicted to result in the amino acid substitution p.Thr500Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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