ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34004A>C (p.Lys11335Thr)

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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 RCV004736047 SCV005363894 uncertain significance TTN-related disorder 2024-04-18 no assertion criteria provided clinical testing The TTN c.34004A>C variant is predicted to result in the amino acid substitution p.Lys11335Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0059% of alleles in individuals of East Asian descent in gnomAD. 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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