ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1870G>C (p.Asp624His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142957 SCV003819627 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004725654 SCV005338933 uncertain significance TTN-related disorder 2024-08-21 no assertion criteria provided clinical testing The TTN c.1870G>C variant is predicted to result in the amino acid substitution p.Asp624His. 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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