ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95473A>G (p.Ile31825Val)

gnomAD frequency: 0.00001  dbSNP: rs1393236297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729631 SCV000857307 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535824 SCV004709650 uncertain significance TTN-related disorder 2024-01-02 no assertion criteria provided clinical testing The TTN c.95473A>G variant is predicted to result in the amino acid substitution p.Ile31825Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino 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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