ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala)

gnomAD frequency: 0.00005  dbSNP: rs398124449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723647 SCV000114381 uncertain significance not provided 2013-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000723647 SCV000719325 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003390780 SCV004121153 uncertain significance TTN-related condition 2023-05-12 criteria provided, single submitter clinical testing The TTN c.39230T>C variant is predicted to result in the amino acid substitution p.Val13077Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179516888-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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