ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11312-4319G>A (rs72648913)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172706 SCV000051498 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041064 SCV000064755 likely benign not specified 2012-02-10 criteria provided, single submitter clinical testing p.Cys5387Tyr in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (28/7016) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS; dbSNP rs72648913).
GeneDx RCV000041064 SCV000238153 uncertain significance not specified 2015-12-09 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM,CARDIOMYOPATHY panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041064 SCV000337468 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172706 SCV001153115 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293138 SCV001434128 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285860 SCV001472362 uncertain significance none provided 2020-03-20 criteria provided, single submitter clinical testing The TTN c.16160G>A; p.Cys5387Tyr variant (rs72648913; ClinVar Variation ID: 47795) 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.Cys5387Tyr variant cannot be determined with certainty.

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