ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88946C>T (p.Ser29649Leu)

gnomAD frequency: 0.00002  dbSNP: rs764695663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184943 SCV000237711 uncertain significance not specified 2014-05-15 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).
CeGaT Center for Human Genetics Tuebingen RCV003480079 SCV001502341 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Fulgent Genetics, Fulgent Genetics RCV002485252 SCV002792160 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480079 SCV004225794 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing

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