ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) (rs185620750)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220102 SCV000272733 uncertain significance not specified 2015-02-06 criteria provided, single submitter clinical testing The p.Arg20001Gln variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/11478 Latino chromosomes by t he Exome Aggregation Consortium (ExAC,; dbSNP rs1 85620750). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Arg20001Gln variant is uncertain.
Invitae RCV000469752 SCV000543048 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000184752 SCV000705239 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620954 SCV000737162 likely benign Cardiovascular phenotype 2019-05-24 criteria provided, single submitter clinical testing Other strong data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000184752 SCV001152795 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000184752 SCV000237459 not provided not provided 2014-06-23 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).
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000184752 SCV000925000 uncertain significance not provided 2016-12-07 no assertion criteria provided provider interpretation

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