ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) (rs200165636)

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Total submissions: 6
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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 RCV000172495 SCV000055124 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000412678 SCV000238102 uncertain significance not specified 2013-11-18 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 CARDIOMYOPATHY panel(s).
Invitae RCV000524658 SCV000642890 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-12 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578069 SCV000679954 uncertain significance Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577960 SCV000679955 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578038 SCV000679956 uncertain significance Distal myopathy Markesbery-Griggs type 2017-08-01 criteria provided, single submitter clinical testing

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