ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) (rs141027782)

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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, Partners HealthCare Personalized Medicine RCV000041118 SCV000064809 likely benign not specified 2012-12-18 criteria provided, single submitter clinical testing Ile3470Thr in exon 44B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 2.6% (5/192) of Luhya chromosomes fr om a broad population by the 1000 Genomes project (dbSNP rs141027782). Ile3470T hr in exon 44B of TTN (rs141027782; allele frequency = 2.6%, 5/192)
GeneDx RCV000041118 SCV000238082 uncertain significance not specified 2015-12-01 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).
Invitae RCV001088266 SCV000555226 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000462754 SCV001153153 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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