ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) (rs201046911)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218512 SCV000238185 uncertain significance not specified 2015-11-13 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,DCM-CRDM panel(s).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218512 SCV000271143 likely benign not specified 2015-04-23 criteria provided, single submitter clinical testing p.Val4302Met in exon 45B of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 5 mammals (Rhesus monkey, crab eating macaque, baboon, green monkey, and a ardvark) carry a methionine (Met) at this position. It has been identified in 2/ 66622 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://; dbSNP rs201046911).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727092 SCV000705591 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV001082208 SCV000764707 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-18 criteria provided, single submitter clinical testing

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