ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64468G>T (p.Val21490Leu)

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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 RCV004729936 SCV005337080 uncertain significance TTN-related disorder 2024-08-20 no assertion criteria provided clinical testing The TTN c.64468G>T variant is predicted to result in the amino acid substitution p.Val21490Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% 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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