ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)

gnomAD frequency: 0.00006  dbSNP: rs200931793
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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 RCV000172669 SCV000051283 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000412693 SCV000237179 uncertain significance not specified 2015-05-29 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV000468053 SCV000542315 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172669 SCV003825964 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000412693 SCV004029871 uncertain significance not specified 2023-07-22 criteria provided, single submitter clinical testing

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