ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55973G>A (p.Arg18658Gln)

gnomAD frequency: 0.00003  dbSNP: rs370888932
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040379 SCV000064070 uncertain significance not specified 2013-02-22 criteria provided, single submitter clinical testing The Arg16090Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/8592 E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/;). This frequency is too low to ru le out a role in disease. Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, Polyphen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to f ully assess the clinical significance of the Arg16090Gln variant.
GeneDx RCV000040379 SCV000237323 uncertain significance not specified 2014-10-27 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).
Eurofins Ntd Llc (ga) RCV000725280 SCV000335645 uncertain significance not provided 2015-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725280 SCV001249872 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing

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