ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3008_3009delinsAA (p.Arg1003Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004726375 SCV005335687 uncertain significance TTN-related disorder 2024-08-16 no assertion criteria provided clinical testing The TTN c.3008_3009delinsAA variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database, 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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