ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)

gnomAD frequency: 0.00001  dbSNP: rs372618781
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184104 SCV000236655 benign not specified 2014-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000643555 SCV000765242 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001311250 SCV001473808 uncertain significance not provided 2019-12-15 criteria provided, single submitter clinical testing The TTN c.52409C>A; p.Pro17470Gln variant (rs372618781; ClinVar Variation ID: 202271) 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.Pro17470Gln 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798643 SCV002042531 uncertain significance Cardiomyopathy 2019-08-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001311250 SCV003822318 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001311250 SCV001922123 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001311250 SCV001956903 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001311250 SCV001974705 uncertain significance not provided no assertion criteria provided clinical testing

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