ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84011A>G (p.Lys28004Arg)

gnomAD frequency: 0.00001  dbSNP: rs776987640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643695 SCV000765382 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735701 SCV005354672 uncertain significance TTN-related disorder 2024-06-26 no assertion criteria provided clinical testing The TTN c.84011A>G variant is predicted to result in the amino acid substitution p.Lys28004Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00090% 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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