ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+4338A>C (rs139344272)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152447 SCV000201532 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing p.Gln4538His in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (64/8552) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs139344272).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152447 SCV000855308 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000185259 SCV001501781 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000185259 SCV000238121 not provided not provided 2014-07-22 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 CARDIOMYOPATHY,DCM-CRDM panel(s).

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