ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln)

gnomAD frequency: 0.00016  dbSNP: rs761660130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812406 SCV001471751 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing The TTN c.36019G>C; p.Glu12007Gln variant (rs761660130) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Glu12007Gln variant cannot be determined with certainty. References: Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11). Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28.
Athena Diagnostics Inc RCV001664797 SCV001880249 likely benign not specified 2021-05-13 criteria provided, single submitter clinical testing

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