ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88950G>C (p.Met29650Ile)

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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 RCV004538998 SCV004111148 uncertain significance TTN-related disorder 2023-01-06 criteria provided, single submitter clinical testing The TTN c.88950G>C variant is predicted to result in the amino acid substitution p.Met29650Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179418888-C-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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