ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)

gnomAD frequency: 0.00039  dbSNP: rs185913848
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Total submissions: 7
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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 RCV000172662 SCV000051266 likely benign not provided 2013-06-24 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000172662 SCV000493403 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000172662 SCV000855041 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852843 SCV000995574 likely benign Arrhythmogenic right ventricular cardiomyopathy 2019-04-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172662 SCV003822331 likely benign not provided 2023-10-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486723 SCV004239940 benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000172662 SCV000237289 not provided not provided 2013-09-27 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 panel(s).

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