ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.16592G>A (p.Gly5531Glu) (rs185962498)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179198 SCV000336435 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000179198 SCV000238243 not provided not provided 2014-07-10 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 panel(s).
Invitae RCV000470750 SCV000555021 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155840 SCV000205551 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing p.Gly4604Glu in exon 57 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (23/8608) of East Asian chromosomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs185962498).

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