ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35185G>A (p.Glu11729Lys)

gnomAD frequency: 0.00007  dbSNP: rs762444896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002240127 SCV002511946 uncertain significance not specified 2022-04-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138116 SCV003819137 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734479 SCV005347789 uncertain significance TTN-related disorder 2024-04-17 no assertion criteria provided clinical testing The TTN c.35185G>A variant is predicted to result in the amino acid substitution p.Glu11729Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) 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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