ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+5216G>A (rs150615457)

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Total submissions: 5
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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 RCV000172709 SCV000051771 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041042 SCV000064733 benign not specified 2014-12-17 criteria provided, single submitter clinical testing p.Cys4831Tyr in exon 46 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.35% (390/16604) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs150615457). Moreover, cysteine (Cys) at position 4831 is not conser ved in mammals an evolutionarily distant species and opossum, tasmanian devil, wallaby and platypus have a tyrosine (Tyr) at this position.
Invitae RCV001088150 SCV000642634 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-03-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282651 SCV001157551 benign none provided 2020-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000172709 SCV000238131 not provided not provided 2014-07-29 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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