ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45977A>T (p.Asn15326Ile)

dbSNP: rs2058104840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765109 SCV001989703 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728794 SCV005338634 uncertain significance TTN-related disorder 2024-04-30 no assertion criteria provided clinical testing The TTN c.45977A>T variant is predicted to result in the amino acid substitution p.Asn15326Ile. 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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