ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13347A>G (p.Ile4449Met)

gnomAD frequency: 0.00200  dbSNP: rs144539321
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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, Mass General Brigham Personalized Medicine RCV000041021 SCV000064712 likely benign not specified 2015-06-12 criteria provided, single submitter clinical testing p.Ile4449Met in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (69/9888) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs144539321).
Eurofins Ntd Llc (ga) RCV000041021 SCV000705082 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490575 SCV002801949 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541198 SCV004784083 benign TTN-related disorder 2019-08-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx RCV000185253 SCV000238115 not provided not provided 2014-02-14 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 DCM-CRDM panel(s).

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