ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69229C>T (p.Leu23077Phe)

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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 RCV004531729 SCV004118926 uncertain significance TTN-related disorder 2022-12-04 criteria provided, single submitter clinical testing The TTN c.69229C>T variant is predicted to result in the amino acid substitution p.Leu23077Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179441833-G-A). 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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