ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30707A>C (p.Asp10236Ala)

gnomAD frequency: 0.00002  dbSNP: rs539986891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156598 SCV000206317 uncertain significance not specified 2014-06-30 criteria provided, single submitter clinical testing The Asp8992Ala variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the Asp8992Ala varian t is uncertain.
PreventionGenetics, part of Exact Sciences RCV004544456 SCV004790194 uncertain significance TTN-related disorder 2023-12-13 no assertion criteria provided clinical testing The TTN c.30707A>C variant is predicted to result in the amino acid substitution p.Asp10236Ala. 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. 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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