ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) (rs553548392)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185387 SCV000238292 uncertain significance not specified 2014-08-11 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).
Athena Diagnostics Inc RCV000713984 SCV000844639 benign not provided 2018-06-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000713984 SCV000855122 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000185387 SCV000967127 benign not specified 2018-10-24 criteria provided, single submitter clinical testing The p.Lys5822Arg variant in TTN is classified as benign because it has been iden tified in 0.18% (66/35238) of Latino chromosomes by gnomAD (http://gnomad.broadi nstitute.org). ACMG/AMP Criteria applied: BA1.
Invitae RCV001087209 SCV001002089 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing

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