ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) (rs56391938)

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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 RCV000172634 SCV000051303 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172634 SCV000236885 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213073 SCV000272765 uncertain significance not specified 2015-04-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala23171Gly v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.1% (72/66702) of European chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs5639193 8). In addition, alanine (Ala) at position 23171 is not well conserved in evolut ion, suggesting that a change at this position may be tolerated. In summary, whi le the clinical significance of the p.Ala23171Gly variant is uncertain, its freq uency and lack of evolutionary conservation suggests that it is more likely to b e benign.
Invitae RCV001086328 SCV000286842 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172634 SCV000333489 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171262 SCV001333971 benign Cardiomyopathy 2017-11-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172634 SCV001741487 uncertain significance not provided no assertion criteria provided clinical testing

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