ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88973T>C (p.Ile29658Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139150 SCV003819715 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538911 SCV004113563 uncertain significance TTN-related disorder 2023-02-27 criteria provided, single submitter clinical testing The TTN c.88973T>C variant is predicted to result in the amino acid substitution p.Ile29658Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179418865-A-G). 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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