ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+1370G>A (rs148115514)

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Total submissions: 4
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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 RCV000172722 SCV000051332 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220127 SCV000272842 uncertain significance not specified 2015-06-09 criteria provided, single submitter clinical testing The p.Arg3549His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 46/66562 European chromosomes an d 26/16478 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs148115514). Computational prediction tools and conservation analysis are limited or unavailable for this variant. In summ ary, the clinical significance of the p.Arg3549His variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000220127 SCV000855467 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000172722 SCV000238089 not provided not provided 2014-08-01 no assertion provided 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 panel(s).

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