ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) (rs201674674)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040710 SCV000064401 likely benign not specified 2014-05-28 criteria provided, single submitter clinical testing Gln25740Pro in exon 275 of TTN: This variant has been identified in 1/8250 Europ ean American chromosomes and 1/3832 African American chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS/). It is not expected t o have clinical significance due to a lack of evolutionary conservation. Of note , 5 have a proline (Pro) at this position despite high nearby amino acid conserv ation, suggesting that this change is tolerated.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176789 SCV000228510 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000531860 SCV000643789 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-04 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852801 SCV000995528 likely benign Congestive heart failure 2017-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000176789 SCV000237658 not provided not provided 2014-08-28 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,CARDIOMYOPATHY panel(s).
Clinical Genetics,Academic Medical Center RCV000176789 SCV001924761 uncertain significance not provided no assertion criteria provided clinical testing

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