ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52425T>G (p.Asp17475Glu)

dbSNP: rs1176767614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736398 SCV004564230 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing The TTN c.52425T>G; p.Asp17475Glu variant (rs1176767614) is rare in the general population (<0.2% 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.Asp17475Glu variant cannot be determined with certainty.

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