ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69536G>C (p.Arg23179Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004531737 SCV004117317 uncertain significance TTN-related disorder 2023-08-28 criteria provided, single submitter clinical testing The TTN c.69536G>C variant is predicted to result in the amino acid substitution p.Arg23179Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179441435-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV004790563 SCV005413044 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing BP4

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