ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) (rs397517825)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041078 SCV000064769 uncertain significance not specified 2013-08-11 criteria provided, single submitter clinical testing The Val3598Met variant in TTN has now been identified by our laboratory in 1 Ind ian individual with HCM and in 1 Afghan individual with Barth syndrome, who carr ied likely pathogenic variants in other genes. This variant has not been identif ied in large population studies. Evolutionary conservation and other computation al analyses are limited or unavailable for this variant. Additional information is needed to fully assess its clinical significance.
GeneDx RCV000041078 SCV000238163 uncertain significance not specified 2016-10-19 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).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041078 SCV000344723 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV000539120 SCV000642638 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769095 SCV000900468 benign Cardiomyopathy 2018-07-31 criteria provided, single submitter clinical testing

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